nsv6628610
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62,069
- Publication(s):Zarrei et al. 2023
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: 319 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 56 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6628610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nsv6628610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18282189 | duplication | OSC2225 | SNP array | Probe signal intensity | nssv18282810, nssv18282811 |
nssv18284704 | duplication | OSC0257 | SNP array | Probe signal intensity | 7 |
nssv18285165 | duplication | OSC2568 | SNP array | Probe signal intensity | 8 |
nssv18288353 | duplication | OSC3334 | SNP array | Probe signal intensity | 6 |
nssv18295354 | duplication | OSC4558 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18282189 | Remapped | Perfect | NC_000002.12:g.(?_ 99231427)_(9929349 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nssv18284704 | Remapped | Perfect | NC_000002.12:g.(?_ 99231427)_(9929349 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nssv18285165 | Remapped | Perfect | NC_000002.12:g.(?_ 99231427)_(9929349 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nssv18288353 | Remapped | Perfect | NC_000002.12:g.(?_ 99231427)_(9929349 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nssv18295354 | Remapped | Perfect | NC_000002.12:g.(?_ 99231427)_(9929349 5_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 99,231,427 | 99,293,495 |
nssv18282189 | Submitted genomic | NC_000002.11:g.(?_ 99847890)_(9990995 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 | ||
nssv18284704 | Submitted genomic | NC_000002.11:g.(?_ 99847890)_(9990995 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 | ||
nssv18285165 | Submitted genomic | NC_000002.11:g.(?_ 99847890)_(9990995 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 | ||
nssv18288353 | Submitted genomic | NC_000002.11:g.(?_ 99847890)_(9990995 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 | ||
nssv18295354 | Submitted genomic | NC_000002.11:g.(?_ 99847890)_(9990995 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 99,847,890 | 99,909,958 |