nsv3893180
- 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:354,544
- Description:GRCh38/hg38 1q31.1-31.2(chr1:190590021-190944564)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: 1175 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1175 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893180 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 190,590,021 | 190,944,564 |
| nsv3893180 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 190,559,151 | 190,913,694 |
| nsv3893180 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 188,825,774 | 189,180,317 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139507 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000142288.4, VCV000154180.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139507 | Submitted genomic | NC_000001.11:g.(?_ 190590021)_(190944 564_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 190,590,021 | 190,944,564 |
| nssv15139507 | Submitted genomic | NC_000001.10:g.(?_ 190559151)_(190913 694_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 190,559,151 | 190,913,694 |
| nssv15139507 | Submitted genomic | NC_000001.9:g.(?_1 88825774)_(1891803 17_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 188,825,774 | 189,180,317 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139507 | GRCh37: NC_000001.10:g.(?_190559151)_(190913694_?)del, GRCh38: NC_000001.11:g.(?_190590021)_(190944564_?)del, NCBI36: NC_000001.9:g.(?_188825774)_(189180317_?)del | copy number loss | paternal | See cases | Likely benign | ClinVar | RCV000142288.4, VCV000154180.2 | 1 |