nsv834230
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:243,716
- Publication(s):Wong et al. 2006
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: 871 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 880 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv834230 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nsv834230 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nsv834230 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1456187 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1456188 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1456189 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1456190 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456191 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456192 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456193 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456194 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456195 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456196 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456197 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456198 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456199 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456200 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456201 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456202 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456203 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1456204 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1456187 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456188 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456189 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456190 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456191 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456192 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456193 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456194 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456195 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456196 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456197 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456198 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456199 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456200 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456201 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456202 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456203 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456204 | Remapped | Good | NC_000022.11:g.(47 875350_?)_(?_48119 065)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 47,875,350 | 48,119,065 |
| nssv1456187 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456188 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456189 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456190 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456191 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456192 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456193 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456194 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456195 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456196 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456197 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456198 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456199 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456200 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456201 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456202 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456203 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456204 | Remapped | Perfect | NC_000022.10:g.(48 271099_?)_(?_48514 882)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,271,099 | 48,514,882 |
| nssv1456187 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456188 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456189 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456190 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456191 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456192 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456193 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456194 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456195 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456196 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456197 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456198 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456199 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456200 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456201 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456202 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456203 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 | ||
| nssv1456204 | Submitted genomic | NC_000022.8:g.(465 91618_?)_(?_468354 01)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 46,591,618 | 46,835,401 |