nsv4898369
- 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:1,083
- 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: 116 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4898369 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,638,389 (-8, +8) | 206,639,471 (-6, +6) | ||
| nsv4898369 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,811,734 (-8, +8) | 206,812,816 (-6, +6) |
| nsv4898369 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 629,243 (-8, +8) | 630,325 (-6, +6) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16425156 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16425156 | Submitted genomic | NC_000001.11:g.(20 6638381_206638397) _(206639465_206639 477)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,638,389 (-8, +8) | 206,639,471 (-6, +6) | ||
| nssv16425156 | Remapped | Perfect | NW_003871057.1:g.( 629235_629251)_(63 0319_630331)del | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 629,243 (-8, +8) | 630,325 (-6, +6) |
| nssv16425156 | Remapped | Perfect | NC_000001.10:g.(20 6811726_206811742) _(206812810_206812 822)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,811,734 (-8, +8) | 206,812,816 (-6, +6) |
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) |
|---|---|---|---|
| nssv16425156 | <0.001 | 1 | 29246 |