nsv4907409
- 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:933
- 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: 210 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 210 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4907409 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 26,247,904 (-14, +14) | 26,248,836 (-2, +2) | ||
nsv4907409 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 23,827,868 (-14, +14) | 23,828,800 (-2, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16569396 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16569396 | Submitted genomic | NC_000018.10:g.(26 247890_26247918)_( 26248834_26248838) del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 26,247,904 (-14, +14) | 26,248,836 (-2, +2) | ||
nssv16569396 | Remapped | Perfect | NC_000018.9:g.(238 27854_23827882)_(2 3828798_23828802)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 23,827,868 (-14, +14) | 23,828,800 (-2, +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) |
---|---|---|---|
nssv16569396 | 0.041 | 1194 | 29246 |