nsv4750714
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Quan et al. 2021
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: 165 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4750714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,009,099 | 70,009,099 |
nsv4750714 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 49,235 | 49,235 |
nsv4750714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 70,874,816 | 70,874,816 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16271596 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16271596 | Remapped | Perfect | NW_013171801.1:g.4 9235_49236ins91 | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 49,235 | 49,235 |
nssv16271596 | Remapped | Perfect | NC_000004.12:g.700 09099_70009100ins9 1 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,009,099 | 70,009,099 |
nssv16271596 | Submitted genomic | NC_000004.11:g.708 74816_70874817ins9 1 | GRCh37 (hg19) | NC_000004.11 | Chr4 | 70,874,816 | 70,874,816 |