nsv3900886
- 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:1,183,594
- Description:GRCh38/hg38 1q31.1(chr1:189593085-190776678)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: 3851 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3851 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1059 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900886 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 189,593,085 | 190,776,678 |
| nsv3900886 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,562,215 | 190,745,808 |
| nsv3900886 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,828,838 | 189,012,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134194 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000135645.4, VCV000146340.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134194 | Submitted genomic | NC_000001.11:g.(?_ 189593085)_(190776 678_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 189,593,085 | 190,776,678 |
| nssv15134194 | Submitted genomic | NC_000001.10:g.(?_ 189562215)_(190745 808_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,562,215 | 190,745,808 |
| nssv15134194 | Submitted genomic | NC_000001.9:g.(?_1 87828838)_(1890124 31_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,828,838 | 189,012,431 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134194 | GRCh37: NC_000001.10:g.(?_189562215)_(190745808_?)del, GRCh38: NC_000001.11:g.(?_189593085)_(190776678_?)del, NCBI36: NC_000001.9:g.(?_187828838)_(189012431_?)del | copy number loss | paternal | See cases | Likely benign | ClinVar | RCV000135645.4, VCV000146340.2 | 1 |