nsv3922364
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,557,317
- Description:GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9125 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 9127 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2377 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922364 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 107,356,178 | 110,913,494 |
| nsv3922364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 108,368,406 | 111,925,723 |
| nsv3922364 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 108,437,582 | 111,994,899 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133560 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000052185.6, VCV000058431.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133560 | Submitted genomic | NC_000008.11:g.(?_ 107356178)_(110913 494_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 107,356,178 | 110,913,494 |
| nssv15133560 | Submitted genomic | NC_000008.10:g.(?_ 108368406)_(111925 723_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 108,368,406 | 111,925,723 |
| nssv15133560 | Submitted genomic | NC_000008.9:g.(?_1 08437582)_(1119948 99_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 108,437,582 | 111,994,899 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133560 | GRCh37: NC_000008.10:g.(?_108368406)_(111925723_?)dup, GRCh38: NC_000008.11:g.(?_107356178)_(110913494_?)dup, NCBI36: NC_000008.9:g.(?_108437582)_(111994899_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000052185.6, VCV000058431.1 | 3 |