nsv3919676
- 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:3,349,874
- Description:GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)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: 7026 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7003 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1732 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919676 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 105,644,967 | 108,994,840 |
| nsv3919676 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 106,038,745 | 109,432,645 |
| nsv3919676 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 104,562,875 | 107,917,026 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136124 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138537.4, VCV000149538.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136124 | Submitted genomic | NC_000012.12:g.(?_ 105644967)_(108994 840_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 105,644,967 | 108,994,840 |
| nssv15136124 | Submitted genomic | NC_000012.11:g.(?_ 106038745)_(109432 645_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 106,038,745 | 109,432,645 |
| nssv15136124 | Submitted genomic | NC_000012.10:g.(?_ 104562875)_(107917 026_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 104,562,875 | 107,917,026 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136124 | GRCh37: NC_000012.11:g.(?_106038745)_(109432645_?)del, GRCh38: NC_000012.12:g.(?_105644967)_(108994840_?)del, NCBI36: NC_000012.10:g.(?_104562875)_(107917026_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000138537.4, VCV000149538.2 | 1 |