nsv3914128
- 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:55,492
- Description:GRCh38/hg38 7q21.11(chr7:79708363-79763854)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: 267 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914128 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 79,708,363 | 79,763,854 |
| nsv3914128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 79,337,679 | 79,393,170 |
| nsv3914128 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 79,175,615 | 79,231,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122666 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000140939.4, VCV000152397.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122666 | Submitted genomic | NC_000007.14:g.(?_ 79708363)_(7976385 4_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 79,708,363 | 79,763,854 |
| nssv15122666 | Submitted genomic | NC_000007.13:g.(?_ 79337679)_(7939317 0_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 79,337,679 | 79,393,170 |
| nssv15122666 | Submitted genomic | NC_000007.12:g.(?_ 79175615)_(7923110 6_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 79,175,615 | 79,231,106 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122666 | GRCh37: NC_000007.13:g.(?_79337679)_(79393170_?)dup, GRCh38: NC_000007.14:g.(?_79708363)_(79763854_?)dup, NCBI36: NC_000007.12:g.(?_79175615)_(79231106_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000140939.4, VCV000152397.1 | 3 |