nsv5021131
- 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:35,609
- 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: 211 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 46 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5021131 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 52,137,235 (-2, +40) | 52,172,843 (-33, +2) | ||
nsv5021131 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 52,640,488 (-2, +40) | 52,676,096 (-33, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16580512 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16580512 | Submitted genomic | NC_000019.10:g.(52 137233_52137275)_( 52172810_52172845) del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 52,137,235 (-2, +40) | 52,172,843 (-33, +2) | ||
nssv16580512 | Remapped | Perfect | NC_000019.9:g.(526 40486_52640528)_(5 2676063_52676098)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 52,640,488 (-2, +40) | 52,676,096 (-33, +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) |
---|---|---|---|
nssv16580512 | <0.001 | 2 | 29246 |