nsv3915669
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,214,547
- Description:GRCh38/hg38 5q13.2(chr5:70076645-71291191)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: 3073 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3077 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1290 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915669 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 70,076,645 | 71,291,191 |
| nsv3915669 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 69,372,472 | 70,587,018 |
| nsv3915669 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 69,408,228 | 70,622,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122330 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141526.4, VCV000153027.2 | 3 |
| nssv15133096 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133989.4, VCV000144507.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122330 | Submitted genomic | NC_000005.10:g.(?_ 70076645)_(7129119 1_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 70,076,645 | 71,291,191 |
| nssv15133096 | Submitted genomic | NC_000005.10:g.(?_ 70076645)_(7129119 1_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 70,076,645 | 71,291,191 |
| nssv15122330 | Submitted genomic | NC_000005.9:g.(?_6 9372472)_(70587018 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,372,472 | 70,587,018 |
| nssv15133096 | Submitted genomic | NC_000005.9:g.(?_6 9372472)_(70587018 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,372,472 | 70,587,018 |
| nssv15122330 | Submitted genomic | NC_000005.8:g.(?_6 9408228)_(70622774 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,408,228 | 70,622,774 |
| nssv15133096 | Submitted genomic | NC_000005.8:g.(?_6 9408228)_(70622774 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,408,228 | 70,622,774 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122330 | GRCh37: NC_000005.9:g.(?_69372472)_(70587018_?)dup, GRCh38: NC_000005.10:g.(?_70076645)_(71291191_?)dup, NCBI36: NC_000005.8:g.(?_69408228)_(70622774_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000141526.4, VCV000153027.2 | 3 |
| nssv15133096 | GRCh37: NC_000005.9:g.(?_69372472)_(70587018_?)dup, GRCh38: NC_000005.10:g.(?_70076645)_(71291191_?)dup, NCBI36: NC_000005.8:g.(?_69408228)_(70622774_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000133989.4, VCV000144507.2 | 3 |