nsv6624284
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,436
- 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: 3299 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1422 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 2994 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nsv6624284 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nsv6624284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18304709 | duplication | OSC6271 | SNP array | Probe signal intensity | 11 |
| nssv18305180 | duplication | OSC6388 | SNP array | Probe signal intensity | 10 |
| nssv18305391 | duplication | OSC6352 | SNP array | Probe signal intensity | 5 |
| nssv18305826 | duplication | OSC6436 | SNP array | Probe signal intensity | 13 |
| nssv18305939 | duplication | OSC6517 | SNP array | Probe signal intensity | 13 |
| nssv18306979 | duplication | OSC6590 | SNP array | Probe signal intensity | 18 |
| nssv18307436 | duplication | OSC6671 | SNP array | Probe signal intensity | 5 |
| nssv18309425 | duplication | OSC7002 | SNP array | Probe signal intensity | 9 |
| nssv18310358 | duplication | OSC7204 | SNP array | Probe signal intensity | 11 |
| nssv18312336 | duplication | OSC7527 | SNP array | Probe signal intensity | 9 |
| nssv18312518 | duplication | OSC7680 | SNP array | Probe signal intensity | 6 |
| nssv18313856 | duplication | OSC7956 | SNP array | Probe signal intensity | 9 |
| nssv18315522 | duplication | OSC8012 | SNP array | Probe signal intensity | 16 |
| nssv18317291 | duplication | OSC8391 | SNP array | Probe signal intensity | 7 |
| nssv18318856 | duplication | OSC8804 | SNP array | Probe signal intensity | 11 |
| nssv18319255 | duplication | OSC8655 | SNP array | Probe signal intensity | 16 |
| nssv18319317 | duplication | OSC8700 | SNP array | Probe signal intensity | 13 |
| nssv18319517 | duplication | OSC8650 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18304709 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18305180 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18305391 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18305826 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18305939 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18306979 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18307436 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18309425 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18310358 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18312336 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18312518 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18313856 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18315522 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18317291 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18318856 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18319255 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18319317 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18319517 | Remapped | Pass | NT_187663.1:g.(?_8 54525)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 854,525 | 954,783 |
| nssv18304709 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18305180 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18305391 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18305826 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18305939 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18306979 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18307436 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18309425 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18310358 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18312336 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18312518 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18313856 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18315522 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18317291 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18318856 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18319255 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18319317 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18319517 | Remapped | Perfect | NC_000017.11:g.(?_ 46152421)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,152,421 | 46,275,856 |
| nssv18304709 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18305180 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18305391 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18305826 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18305939 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18306979 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18307436 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18309425 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18310358 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18312336 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18312518 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18313856 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18315522 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18317291 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18318856 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18319255 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18319317 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 | ||
| nssv18319517 | Submitted genomic | NC_000017.10:g.(?_ 44229787)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,229,787 | 44,353,222 |