nsv3899118
- 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:44,593
- Description:GRCh38/hg38 1p36.11(chr1:23956536-24001128)x3 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: 168 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899118 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 23,956,536 | 24,001,128 |
| nsv3899118 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 24,283,026 | 24,327,618 |
| nsv3899118 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 24,155,613 | 24,200,205 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120020 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000134213.3, VCV000144809.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120020 | Submitted genomic | NC_000001.11:g.(?_ 23956536)_(2400112 8_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 23,956,536 | 24,001,128 |
| nssv15120020 | Submitted genomic | NC_000001.10:g.(?_ 24283026)_(2432761 8_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 24,283,026 | 24,327,618 |
| nssv15120020 | Submitted genomic | NC_000001.9:g.(?_2 4155613)_(24200205 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 24,155,613 | 24,200,205 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120020 | GRCh37: NC_000001.10:g.(?_24283026)_(24327618_?)dup, GRCh38: NC_000001.11:g.(?_23956536)_(24001128_?)dup, NCBI36: NC_000001.9:g.(?_24155613)_(24200205_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000134213.3, VCV000144809.1 | 3 |