nsv3900719
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,428
- Description:GRCh37/hg19 7p15.1(chr7:28574339-28576766)x0 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 128 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 28,534,721 | 28,537,148 |
| nsv3900719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 28,574,339 | 28,576,766 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15166939 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000746580.2, VCV000609944.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15166939 | Remapped | Perfect | NC_000007.14:g.(?_ 28534721)_(2853714 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 28,534,721 | 28,537,148 |
| nssv15166939 | Submitted genomic | NC_000007.13:g.(?_ 28574339)_(2857676 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 28,574,339 | 28,576,766 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15166939 | GRCh37: NC_000007.13:g.(?_28574339)_(28576766_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000746580.2, VCV000609944.2 | 0 |