nsv4859075
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,185
- 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: 227 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4859075 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 77,267,950 (-1, +1) | 77,277,134 (-2, +2) |
| nsv4859075 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 58,843 (-1, +1) | 68,027 (-2, +2) |
| nsv4859075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 75,264,032 (-1, +1) | 75,273,216 (-2, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16370244 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16370244 | Remapped | Perfect | NW_003315955.1:g.( 58842_58844)_(6802 5_68029)del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 58,843 (-1, +1) | 68,027 (-2, +2) |
| nssv16370244 | Remapped | Perfect | NC_000017.11:g.(77 267949_77267951)_( 77277132_77277136) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,267,950 (-1, +1) | 77,277,134 (-2, +2) |
| nssv16370244 | Submitted genomic | NC_000017.10:g.(75 264031_75264033)_( 75273214_75273218) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,264,032 (-1, +1) | 75,273,216 (-2, +2) |
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) |
|---|---|---|---|
| nssv16370244 | 0.004 | 62 | 16834 |