nsv6629951
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:36
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,154
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1410 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1410 SVs from 82 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6629951 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nsv6629951 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18301613 | duplication | OSC5796 | SNP array | Probe signal intensity | 9 |
nssv18301617 | duplication | OSC5798 | SNP array | Probe signal intensity | 10 |
nssv18303146 | deletion | OSC6053 | SNP array | Probe signal intensity | 8 |
nssv18303798 | duplication | OSC6041 | SNP array | Probe signal intensity | 7 |
nssv18304457 | duplication | OSC6097 | SNP array | Probe signal intensity | nssv18303869, nssv18303870, nssv18304116 |
nssv18305059 | duplication | OSC6288 | SNP array | Probe signal intensity | 6 |
nssv18306270 | deletion | OSC6498 | SNP array | Probe signal intensity | 10 |
nssv18306762 | duplication | OSC6655 | SNP array | Probe signal intensity | 7 |
nssv18307062 | deletion | OSC6637 | SNP array | Probe signal intensity | 7 |
nssv18307429 | duplication | OSC6663 | SNP array | Probe signal intensity | 10 |
nssv18308441 | duplication | OSC6732 | SNP array | Probe signal intensity | 9 |
nssv18310884 | deletion | OSC7150 | SNP array | Probe signal intensity | 10 |
nssv18314098 | deletion | OSC7821 | SNP array | Probe signal intensity | 9 |
nssv18314903 | duplication | OSC8021 | SNP array | Probe signal intensity | 16 |
nssv18315008 | duplication | OSC8102 | SNP array | Probe signal intensity | 7 |
nssv18315150 | deletion | OSC8188 | SNP array | Probe signal intensity | 6 |
nssv18316594 | deletion | OSC8285 | SNP array | Probe signal intensity | 15 |
nssv18316961 | duplication | OSC8341 | SNP array | Probe signal intensity | 10 |
nssv18317056 | deletion | OSC8268 | SNP array | Probe signal intensity | 6 |
nssv18317114 | duplication | OSC8300 | SNP array | Probe signal intensity | 15 |
nssv18317190 | duplication | OSC8339 | SNP array | Probe signal intensity | 10 |
nssv18317518 | deletion | OSC8521 | SNP array | Probe signal intensity | 7 |
nssv18317608 | duplication | OSC8595 | SNP array | Probe signal intensity | nssv18318249, nssv18318900, nssv18318901 |
nssv18317747 | deletion | OSC8420 | SNP array | Probe signal intensity | 9 |
nssv18317769 | duplication | OSC8435 | SNP array | Probe signal intensity | 8 |
nssv18318168 | duplication | OSC8530 | SNP array | Probe signal intensity | 8 |
nssv18318253 | duplication | OSC8597 | SNP array | Probe signal intensity | 10 |
nssv18318274 | deletion | OSC8429 | SNP array | Probe signal intensity | 7 |
nssv18318307 | duplication | OSC8453 | SNP array | Probe signal intensity | 13 |
nssv18318496 | duplication | OSC8579 | SNP array | Probe signal intensity | 10 |
nssv18318902 | duplication | OSC8596 | SNP array | Probe signal intensity | 9 |
nssv18319356 | deletion | OSC8721 | SNP array | Probe signal intensity | 11 |
nssv18319535 | deletion | OSC8658 | SNP array | Probe signal intensity | 12 |
nssv18319796 | duplication | OSC8819 | SNP array | Probe signal intensity | 9 |
nssv18320169 | deletion | OSC8814 | SNP array | Probe signal intensity | 7 |
nssv18320183 | duplication | OSC8824 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18301613 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18301617 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18303146 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18303798 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18304457 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18305059 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18306270 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18306762 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18307062 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18307429 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18308441 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18310884 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18314098 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18314903 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18315008 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18315150 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18316594 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18316961 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317056 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317114 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317190 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317518 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317608 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317747 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18317769 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318168 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318253 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318274 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318307 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318496 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18318902 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18319356 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18319535 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18319796 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18320169 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18320183 | Remapped | Perfect | NC_000004.12:g.(?_ 68535454)_(6856960 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,535,454 | 68,569,607 |
nssv18301613 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18301617 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18303146 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18303798 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18304457 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18305059 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18306270 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18306762 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18307062 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18307429 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18308441 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18310884 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18314098 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18314903 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18315008 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18315150 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18316594 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18316961 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317056 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317114 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317190 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317518 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317608 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317747 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18317769 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318168 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318253 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318274 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318307 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318496 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18318902 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18319356 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18319535 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18319796 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18320169 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 | ||
nssv18320183 | Submitted genomic | NC_000004.11:g.(?_ 69401172)_(6943532 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,401,172 | 69,435,325 |