nsv6631023
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:63,773
- 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: 394 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631023 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nsv6631023 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18301778 | duplication | OSC5735 | SNP array | Probe signal intensity | 9 |
| nssv18302620 | duplication | OSC5861 | SNP array | Probe signal intensity | 9 |
| nssv18306016 | duplication | OSC6341 | SNP array | Probe signal intensity | 10 |
| nssv18306855 | deletion | OSC6729 | SNP array | Probe signal intensity | 7 |
| nssv18306866 | duplication | OSC6737 | SNP array | Probe signal intensity | 14 |
| nssv18309571 | duplication | OSC7092 | SNP array | Probe signal intensity | 8 |
| nssv18309839 | deletion | OSC7076 | SNP array | Probe signal intensity | 9 |
| nssv18315729 | deletion | OSC8146 | SNP array | Probe signal intensity | 10 |
| nssv18316722 | duplication | OSC8358 | SNP array | Probe signal intensity | 7 |
| nssv18317403 | deletion | OSC8447 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18301778 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18302620 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18306016 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18306855 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18306866 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18309571 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18309839 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18315729 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18316722 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18317403 | Remapped | Perfect | NC_000006.12:g.(?_ 29128166)_(2919193 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,128,166 | 29,191,938 |
| nssv18301778 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18302620 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18306016 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18306855 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18306866 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18309571 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18309839 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18315729 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18316722 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 | ||
| nssv18317403 | Submitted genomic | NC_000006.11:g.(?_ 29095943)_(2915971 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,095,943 | 29,159,715 |