nsv4449467
- 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:3,293
- 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: 743 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 416 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449467 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 343,977 | 347,266 |
| nsv4449467 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 55,372 | 58,661 |
| nsv4449467 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 315,415 | 318,707 |
| nsv4449467 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 193,768 | 197,057 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15757759 | delins | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15757759 | Remapped | Perfect | NT_187662.1:g.5537 2_58661delinsAAATG GTTATTATT | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 55,372 | 58,661 |
| nssv15757759 | Remapped | Good | NW_003315952.3:g.3 15415_318707delins AAATGGTTATTATT | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 315,415 | 318,707 |
| nssv15757759 | Remapped | Perfect | NC_000017.11:g.343 977_347266delinsAA ATGGTTATTATT | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 343,977 | 347,266 |
| nssv15757759 | Submitted genomic | NC_000017.10:g.193 768_197057delinsAA ATGGTTATTATT | GRCh37 (hg19) | NC_000017.10 | Chr17 | 193,768 | 197,057 |