nsv3119618
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,055
- Description:
See descriptions for individual calls in download files - Publication(s):Exome Aggregation Consortium CNVs
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: 681 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3119618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nsv3119618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14150597 | copy number loss | Sequencing | Read depth |
| nssv14151016 | copy number gain | Sequencing | Read depth |
| nssv14151227 | copy number loss | Sequencing | Read depth |
| nssv14154789 | copy number loss | Sequencing | Read depth |
| nssv14156819 | copy number loss | Sequencing | Read depth |
| nssv14158548 | copy number loss | Sequencing | Read depth |
| nssv14158678 | copy number loss | Sequencing | Read depth |
| nssv14162198 | copy number loss | Sequencing | Read depth |
| nssv14165594 | copy number loss | Sequencing | Read depth |
| nssv14169393 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14150597 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14151016 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14151227 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14154789 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14156819 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14158548 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14158678 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14162198 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14165594 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14169393 | Remapped | Perfect | NC_000007.14:g.(?_ 67117480)_(6723853 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 67,117,480 | 67,238,534 |
| nssv14150597 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14151016 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14151227 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14154789 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14156819 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14158548 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14158678 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14162198 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14165594 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 | ||
| nssv14169393 | Submitted genomic | NC_000007.13:g.(?_ 66582467)_(6670352 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,582,467 | 66,703,521 |