nsv3908691
- 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:482,734
- Description:GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1 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: 1054 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1054 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908691 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 104,871,270 | 105,354,003 |
| nsv3908691 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 105,487,728 | 105,970,460 |
| nsv3908691 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 104,854,160 | 105,336,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121855 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140132.3, VCV000151418.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121855 | Submitted genomic | NC_000002.12:g.(?_ 104871270)_(105354 003_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 104,871,270 | 105,354,003 |
| nssv15121855 | Submitted genomic | NC_000002.11:g.(?_ 105487728)_(105970 460_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 105,487,728 | 105,970,460 |
| nssv15121855 | Submitted genomic | NC_000002.10:g.(?_ 104854160)_(105336 892_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 104,854,160 | 105,336,892 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121855 | GRCh37: NC_000002.11:g.(?_105487728)_(105970460_?)del, GRCh38: NC_000002.12:g.(?_104871270)_(105354003_?)del, NCBI36: NC_000002.10:g.(?_104854160)_(105336892_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000140132.3, VCV000151418.1 | 1 |