nsv3903429
- 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:6,048,264
- Description:GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)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: 13553 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9295 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 3198 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903429 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 143,515,074 | 149,563,337 |
| nsv3903429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,415,156 | 149,433,207 |
| nsv3903429 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,126,513 | 147,699,831 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137633 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139762.4, VCV000150976.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137633 | Submitted genomic | NC_000001.11:g.(?_ 143515074)_(149563 337_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 143,515,074 | 149,563,337 |
| nssv15137633 | Submitted genomic | NC_000001.10:g.(?_ 145415156)_(149433 207_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,415,156 | 149,433,207 |
| nssv15137633 | Submitted genomic | NC_000001.9:g.(?_1 44126513)_(1476998 31_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,126,513 | 147,699,831 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137633 | GRCh37: NC_000001.10:g.(?_145415156)_(149433207_?)del, GRCh38: NC_000001.11:g.(?_143515074)_(149563337_?)del, NCBI36: NC_000001.9:g.(?_144126513)_(147699831_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139762.4, VCV000150976.2 | 1 |