nsv5035171
- 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:6,319
- 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: 118 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5035171 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 21,668,859 (-26, +47) | 21,675,177 (-24, +24) | ||
nsv5035171 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 21,690,405 (-26, +47) | 21,696,723 (-24, +24) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16525544 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16525544 | Submitted genomic | NC_000011.10:g.(21 668833_21668906)_( 21675153_21675201) del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 21,668,859 (-26, +47) | 21,675,177 (-24, +24) | ||
nssv16525544 | Remapped | Perfect | NC_000011.9:g.(216 90379_21690452)_(2 1696699_21696747)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,690,405 (-26, +47) | 21,696,723 (-24, +24) |
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) |
---|---|---|---|
nssv16525544 | <0.001 | 3 | 29246 |