nsv823345
- Organism: Homo sapiens
- Study:nstd67 (Park et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,492
- Publication(s):Park et al. 2010
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: 217 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv823345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nsv823345 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nsv823345 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1423424 | copy number loss | NA18999 | Oligo aCGH | Probe signal intensity | 674 |
| nssv1424992 | copy number loss | AK2 | Oligo aCGH | Probe signal intensity | 614 |
| nssv1425786 | copy number loss | AK4 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1426308 | copy number loss | NA18968 | Oligo aCGH | Probe signal intensity | 670 |
| nssv1426686 | copy number loss | AK6 | Oligo aCGH | Probe signal intensity | 714 |
| nssv1427512 | copy number loss | AK8 | Oligo aCGH | Probe signal intensity | 623 |
| nssv1428295 | copy number loss | AK10 | Oligo aCGH | Probe signal intensity | 649 |
| nssv1429070 | copy number loss | AK12 | Oligo aCGH | Probe signal intensity | 596 |
| nssv1432064 | copy number loss | AK20 | Oligo aCGH | Probe signal intensity | 768 |
| nssv1432884 | copy number loss | NA18972 | Oligo aCGH | Probe signal intensity | 750 |
| nssv1435104 | copy number gain | NA18942 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1435881 | copy number loss | NA18566 | Oligo aCGH | Probe signal intensity | 605 |
| nssv1436642 | copy number loss | NA18542 | Oligo aCGH | Probe signal intensity | 805 |
| nssv1438164 | copy number gain | NA18951 | Oligo aCGH | Probe signal intensity | 589 |
| nssv1438850 | copy number loss | NA18973 | Oligo aCGH | Probe signal intensity | 782 |
| nssv1440118 | copy number loss | NA18547 | Oligo aCGH | Probe signal intensity | 656 |
| nssv1440368 | copy number loss | NA18564 | Oligo aCGH | Probe signal intensity | 612 |
| nssv1441077 | copy number loss | NA18969 | Oligo aCGH | Probe signal intensity | 898 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1423424 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1424992 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1425786 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1426308 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1426686 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1427512 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1428295 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1429070 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1432064 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1432884 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1435104 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1435881 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1436642 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1438164 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1438850 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1440118 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1440368 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1441077 | Remapped | Perfect | NC_000005.10:g.(?_ 170702862)_(170704 353_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 170,702,862 | 170,704,353 |
| nssv1423424 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1424992 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1425786 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1426308 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1426686 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1427512 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1428295 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1429070 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1432064 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1432884 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1435104 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1435881 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1436642 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1438164 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1438850 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1440118 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1440368 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1441077 | Remapped | Perfect | NC_000005.9:g.(?_1 70129866)_(1701313 57_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 170,129,866 | 170,131,357 |
| nssv1423424 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1424992 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1425786 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1426308 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1426686 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1427512 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1428295 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1429070 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1432064 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1432884 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1435104 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1435881 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1436642 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1438164 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1438850 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1440118 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1440368 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 | ||
| nssv1441077 | Submitted genomic | NC_000005.8:g.(?_1 70062444)_(1700639 35_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 170,062,444 | 170,063,935 |