nsv6624243
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:165,966
- 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: 3668 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1680 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 3464 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nsv6624243 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nsv6624243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18305620 | duplication | OSC6522 | SNP array | Probe signal intensity | 9 |
| nssv18306887 | duplication | OSC6535 | SNP array | Probe signal intensity | 5 |
| nssv18307880 | duplication | OSC6799 | SNP array | Probe signal intensity | 10 |
| nssv18309610 | duplication | OSC7110 | SNP array | Probe signal intensity | 6 |
| nssv18311617 | duplication | OSC7392 | SNP array | Probe signal intensity | 10 |
| nssv18312564 | duplication | OSC7718 | SNP array | Probe signal intensity | 10 |
| nssv18313209 | duplication | OSC7708 | SNP array | Probe signal intensity | 12 |
| nssv18313343 | duplication | OSC7788 | SNP array | Probe signal intensity | 7 |
| nssv18318017 | duplication | OSC8421 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18305620 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18306887 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18307880 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18309610 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18311617 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18312564 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18313209 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18313343 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18318017 | Remapped | Pass | NT_187663.1:g.(?_8 11990)_(954783_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 811,990 | 954,783 |
| nssv18305620 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18306887 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18307880 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18309610 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18311617 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18312564 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18313209 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18313343 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18318017 | Remapped | Perfect | NC_000017.11:g.(?_ 46109891)_(4627585 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,109,891 | 46,275,856 |
| nssv18305620 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18306887 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18307880 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18309610 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18311617 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18312564 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18313209 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18313343 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 | ||
| nssv18318017 | Submitted genomic | NC_000017.10:g.(?_ 44187257)_(4435322 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,187,257 | 44,353,222 |