nsv4449577
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:SVTYPE=INS;REPTYPE=SIMPLEINS
- 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: 149 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449577 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 28,073,495 | 28,073,495 |
| nsv4449577 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315938.1 | Chr12|NW_0 03315938.1 | 37,283 | 37,283 |
| nsv4449577 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 28,226,428 | 28,226,428 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15768546 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15768546 | Remapped | Perfect | NW_003315938.1:g.3 7283_37284ins5975 | GRCh38.p12 | Second Pass | NW_003315938.1 | Chr12|NW_0 03315938.1 | 37,283 | 37,283 |
| nssv15768546 | Remapped | Perfect | NC_000012.12:g.280 73495_28073496ins5 975 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 28,073,495 | 28,073,495 |
| nssv15768546 | Submitted genomic | NC_000012.11:g.282 26428_28226429ins5 975 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 28,226,428 | 28,226,428 |