nsv5040914
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:593
- 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: 937 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 938 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5040914 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 1,668,672 (-1, +1) | 1,669,264 (-1, +1) | ||
nsv5040914 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 1,787,565 (-1, +1) | 1,788,157 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16589058 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16589058 | Submitted genomic | NC_000023.11:g.(16 68671_1668673)_(16 69263_1669265)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 1,668,672 (-1, +1) | 1,669,264 (-1, +1) | ||
nssv16589058 | Remapped | Perfect | NC_000023.10:g.(17 87564_1787566)_(17 88156_1788158)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 1,787,565 (-1, +1) | 1,788,157 (-1, +1) |
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) |
---|---|---|---|
nssv16589058 | 0.071 | 2061 | 29236 |