nsv5024658
- 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:127,099
- 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: 479 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 489 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5024658 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,756,999 | 41,884,097 | ||
| nsv5024658 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,260,907 | 42,388,164 |
| nsv5024658 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 326,038 | 453,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16591582 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16591582 | Submitted genomic | NC_000019.10:g.417 56999_41884097dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,756,999 | 41,884,097 | ||
| nssv16591582 | Remapped | Perfect | NW_004775434.1:g.3 26038_453136dup | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 326,038 | 453,136 |
| nssv16591582 | Remapped | Good | NC_000019.9:g.4226 0907_42388164dup | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,260,907 | 42,388,164 |
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) |
|---|---|---|---|
| nssv16591582 | <0.001 | 1 | 29246 |