nsv6621006
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,444
- 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: 275 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6621006 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 5,884,409 | 5,901,852 |
nsv6621006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 5,905,639 | 5,923,082 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18299602 | duplication | OSC5217 | SNP array | Probe signal intensity | nssv18299019, nssv18299020, nssv18299601 |
nssv18299604 | duplication | OSC5219 | SNP array | Probe signal intensity | 5 |
nssv18300707 | duplication | OSC5623 | SNP array | Probe signal intensity | nssv18300708, nssv18300709, nssv18301984 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18299602 | Remapped | Perfect | NC_000011.10:g.(?_ 5884409)_(5901852_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,884,409 | 5,901,852 |
nssv18299604 | Remapped | Perfect | NC_000011.10:g.(?_ 5884409)_(5901852_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,884,409 | 5,901,852 |
nssv18300707 | Remapped | Perfect | NC_000011.10:g.(?_ 5884409)_(5901852_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,884,409 | 5,901,852 |
nssv18299602 | Submitted genomic | NC_000011.9:g.(?_5 905639)_(5923082_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 5,905,639 | 5,923,082 | ||
nssv18299604 | Submitted genomic | NC_000011.9:g.(?_5 905639)_(5923082_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 5,905,639 | 5,923,082 | ||
nssv18300707 | Submitted genomic | NC_000011.9:g.(?_5 905639)_(5923082_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 5,905,639 | 5,923,082 |