nsv3930814
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35
- Publication(s):Wenger et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 61 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3930814 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 141,731,742 | 141,731,776 |
| nsv3930814 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315922.2 | Chr7|NW_00 3315922.2 | 104,342 | 104,376 |
| nsv3930814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 141,431,542 | 141,431,576 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15198406 | deletion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15198406 | Remapped | Perfect | NW_003315922.2:g.1 04342_104376del | GRCh38.p12 | Second Pass | NW_003315922.2 | Chr7|NW_00 3315922.2 | 104,342 | 104,376 |
| nssv15198406 | Remapped | Perfect | NC_000007.14:g.141 731742_141731776de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 141,731,742 | 141,731,776 |
| nssv15198406 | Submitted genomic | NC_000007.13:g.141 431542_141431576de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 141,431,542 | 141,431,576 |