nsv4716397
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 253 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4716397 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 23,803,591 | 23,803,592 |
nsv4716397 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 23,986,393 | 23,986,394 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16235095 | deletion | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
nssv16241204 | deletion | M478 | Sequencing | Paired-end mapping | 1 | 4,557 |
nssv16242814 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
nssv16247237 | deletion | B450 | Sequencing | Paired-end mapping | 1 | 4,473 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16235095 | Remapped | Perfect | NC_000019.10:g.238 03591_23803592del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 23,803,591 | 23,803,592 |
nssv16241204 | Remapped | Perfect | NC_000019.10:g.238 03591_23803592del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 23,803,591 | 23,803,592 |
nssv16242814 | Remapped | Perfect | NC_000019.10:g.238 03591_23803592del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 23,803,591 | 23,803,592 |
nssv16247237 | Remapped | Perfect | NC_000019.10:g.238 03591_23803592del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 23,803,591 | 23,803,592 |
nssv16235095 | Submitted genomic | NC_000019.9:g.2398 6393_23986394del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 23,986,393 | 23,986,394 | ||
nssv16241204 | Submitted genomic | NC_000019.9:g.2398 6393_23986394del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 23,986,393 | 23,986,394 | ||
nssv16242814 | Submitted genomic | NC_000019.9:g.2398 6393_23986394del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 23,986,393 | 23,986,394 | ||
nssv16247237 | Submitted genomic | NC_000019.9:g.2398 6393_23986394del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 23,986,393 | 23,986,394 |