nsv4872633
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,328
- 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4872633 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 21,668,859 (-29, +61) | 21,675,186 (-42, +30) |
nsv4872633 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 21,690,405 (-29, +61) | 21,696,732 (-42, +30) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16416762 | line1 deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16416762 | Remapped | Perfect | NC_000011.10:g.(21 668830_21668920)_( 21675144_21675216) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,668,859 (-29, +61) | 21,675,186 (-42, +30) |
nssv16416762 | Submitted genomic | NC_000011.9:g.(216 90376_21690466)_(2 1696690_21696762)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 21,690,405 (-29, +61) | 21,696,732 (-42, +30) |
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) |
---|---|---|---|
nssv16416762 | <0.001 | 2 | 16832 |