nsv4443688
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,030
- Description:SVTYPE=DEL;REPTYPE=SUBSDEL
- Publication(s):Genome in a Bottle
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: 374 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 375 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4443688 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,378,537 | 12,389,566 |
| nsv4443688 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,539 | 358,568 |
| nsv4443688 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,531,471 | 12,542,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15756054 | delins | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15756054 | Remapped | Perfect | NW_011332696.1:g.3 47539_358568delins CAAACAAACAAATACATA CATACATAAAATTTTTAA ATTTTTTA | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 347,539 | 358,568 |
| nssv15756054 | Remapped | Perfect | NC_000012.12:g.123 78537_12389566deli nsCAAACAAACAAATACA TACATACATAAAATTTTT AAATTTTTTA | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,378,537 | 12,389,566 |
| nssv15756054 | Submitted genomic | NC_000012.11:g.125 31471_12542500deli nsCAAACAAACAAATACA TACATACATAAAATTTTT AAATTTTTTA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,531,471 | 12,542,500 |