nsv6625085
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,300
- 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: 610 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625085 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nsv6625085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18301885 | duplication | OSC5830 | SNP array | Probe signal intensity | 8 |
| nssv18302502 | duplication | OSC5828 | SNP array | Probe signal intensity | 8 |
| nssv18302723 | duplication | OSC5935 | SNP array | Probe signal intensity | 12 |
| nssv18302932 | deletion | OSC5912 | SNP array | Probe signal intensity | 8 |
| nssv18303013 | deletion | OSC5967 | SNP array | Probe signal intensity | nssv18303015, nssv18303014, nssv18303012 |
| nssv18303741 | duplication | OSC6041 | SNP array | Probe signal intensity | 7 |
| nssv18304025 | duplication | OSC6209 | SNP array | Probe signal intensity | 14 |
| nssv18305943 | duplication | OSC6518 | SNP array | Probe signal intensity | 7 |
| nssv18306657 | duplication | OSC6597 | SNP array | Probe signal intensity | nssv18306997, nssv18306434, nssv18306998 |
| nssv18306825 | deletion | OSC6710 | SNP array | Probe signal intensity | 12 |
| nssv18306993 | duplication | OSC6595 | SNP array | Probe signal intensity | 9 |
| nssv18307003 | duplication | OSC6598 | SNP array | Probe signal intensity | 9 |
| nssv18307780 | duplication | OSC6882 | SNP array | Probe signal intensity | 13 |
| nssv18307836 | duplication | OSC6771 | SNP array | Probe signal intensity | 7 |
| nssv18308040 | duplication | OSC6891 | SNP array | Probe signal intensity | 12 |
| nssv18309743 | duplication | OSC7004 | SNP array | Probe signal intensity | 8 |
| nssv18309868 | duplication | OSC7091 | SNP array | Probe signal intensity | 7 |
| nssv18309937 | deletion | OSC7135 | SNP array | Probe signal intensity | 9 |
| nssv18311636 | duplication | OSC7408 | SNP array | Probe signal intensity | 8 |
| nssv18311736 | duplication | OSC7469 | SNP array | Probe signal intensity | 7 |
| nssv18312889 | duplication | OSC7632 | SNP array | Probe signal intensity | 9 |
| nssv18314684 | deletion | OSC7904 | SNP array | Probe signal intensity | 8 |
| nssv18315962 | duplication | OSC8152 | SNP array | Probe signal intensity | 9 |
| nssv18316078 | duplication | OSC8227 | SNP array | Probe signal intensity | 7 |
| nssv18316402 | duplication | OSC8389 | SNP array | Probe signal intensity | 11 |
| nssv18317889 | duplication | OSC8521 | SNP array | Probe signal intensity | 7 |
| nssv18317962 | duplication | OSC8584 | SNP array | Probe signal intensity | 11 |
| nssv18318035 | duplication | OSC8437 | SNP array | Probe signal intensity | 5 |
| nssv18318662 | deletion | OSC8679 | SNP array | Probe signal intensity | 10 |
| nssv18319059 | duplication | OSC8698 | SNP array | Probe signal intensity | 11 |
| nssv18319168 | duplication | OSC8763 | SNP array | Probe signal intensity | 11 |
| nssv18319306 | duplication | OSC8692 | SNP array | Probe signal intensity | 10 |
| nssv18319433 | duplication | OSC8770 | SNP array | Probe signal intensity | 9 |
| nssv18320171 | duplication | OSC8815 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18301885 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18302502 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18302723 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18302932 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18303013 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18303741 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18304025 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18305943 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18306657 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18306825 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18306993 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18307003 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18307780 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18307836 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18308040 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18309743 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18309868 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18309937 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18311636 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18311736 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18312889 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18314684 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18315962 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18316078 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18316402 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18317889 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18317962 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18318035 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18318662 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18319059 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18319168 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18319306 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18319433 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18320171 | Remapped | Perfect | NC_000001.11:g.(?_ 109677464)_(109698 763_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 109,677,464 | 109,698,763 |
| nssv18301885 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18302502 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18302723 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18302932 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18303013 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18303741 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18304025 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18305943 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18306657 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18306825 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18306993 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18307003 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18307780 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18307836 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18308040 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18309743 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18309868 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18309937 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18311636 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18311736 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18312889 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18314684 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18315962 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18316078 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18316402 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18317889 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18317962 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18318035 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18318662 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18319059 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18319168 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18319306 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18319433 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 | ||
| nssv18320171 | Submitted genomic | NC_000001.10:g.(?_ 110220086)_(110241 385_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 110,220,086 | 110,241,385 |