nsv5013700
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:153,681
- Publication(s):Abel et al. 2020
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: 710 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 708 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5013700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 41,277,005 | 41,430,685 | ||
| nsv5013700 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 39,433,257 | 39,586,937 |
| nsv5013700 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315953.1 | Chr17|NW_0 03315953.1 | 16,589 | 119,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16576122 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16576122 | Submitted genomic | NC_000017.11:g.412 77005_41430685dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 41,277,005 | 41,430,685 | ||
| nssv16576122 | Remapped | Pass | NW_003315953.1:g.1 6589_119548dup | GRCh37.p13 | First Pass | NW_003315953.1 | Chr17|NW_0 03315953.1 | 16,589 | 119,548 |
| nssv16576122 | Remapped | Perfect | NC_000017.10:g.394 33257_39586937dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 39,433,257 | 39,586,937 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16576122 | <0.001 | 1 | 29246 |