nsv6624618
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,492
- 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: 480 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 480 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 | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6624618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nsv6624618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283853 | duplication | OSC2314 | SNP array | Probe signal intensity | 7 |
nssv18285129 | duplication | OSC2547 | SNP array | Probe signal intensity | 9 |
nssv18286274 | duplication | OSC2708 | SNP array | Probe signal intensity | 5 |
nssv18287389 | duplication | OSC3083 | SNP array | Probe signal intensity | 11 |
nssv18292269 | duplication | OSC3919 | SNP array | Probe signal intensity | nssv18291680, nssv18291920, nssv18292268 |
nssv18295998 | duplication | OSC0476 | SNP array | Probe signal intensity | 5 |
nssv18317442 | duplication | OSC0885 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283853 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18285129 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18286274 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18287389 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18292269 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18295998 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18317442 | Remapped | Perfect | NC_000018.10:g.(?_ 76720436)_(7673792 7_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,720,436 | 76,737,927 |
nssv18283853 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18285129 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18286274 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18287389 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18292269 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18295998 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 | ||
nssv18317442 | Submitted genomic | NC_000018.9:g.(?_7 4432392)_(74449883 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,432,392 | 74,449,883 |