nsv5019675
- 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:314,445
- 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: 1381 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1381 SVs from 93 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5019675 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 22,056,719 (-2, +59) | 22,371,163 (-63, +2) | ||
nsv5019675 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 22,239,521 (-2, +59) | 22,553,965 (-63, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16577198 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16577198 | Submitted genomic | NC_000019.10:g.(22 056717_22056778)_( 22371100_22371165) del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 22,056,719 (-2, +59) | 22,371,163 (-63, +2) | ||
nssv16577198 | Remapped | Perfect | NC_000019.9:g.(222 39519_22239580)_(2 2553902_22553967)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 22,239,521 (-2, +59) | 22,553,965 (-63, +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) |
---|---|---|---|
nssv16577198 | <0.001 | 1 | 29246 |