nsv7370
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:5
- Validation:Yes
- Clinical Assertions: No
- Region Size:85,041
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047486700_H19'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047601500_E16'
- TRACE: TEMPLATE_ID='165431_ABC7_000042420500_B8'
- TRACE: TEMPLATE_ID='166320_ABC7_000000493922_E18'
- TRACE: TEMPLATE_ID='166692_ABC7_000042053400_M9'
- TRACE: TEMPLATE_ID='166910_ABC8_000042110200_K8'
- TRACE: TEMPLATE_ID='167098_ABC8_000040867300_G14'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043862600_L8'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044001700_I11'
- TRACE: TEMPLATE_ID='174779_ABC12_000046761600_M13'
- TRACE: TEMPLATE_ID='174779_ABC12_000046921700_K14'
- TRACE: TEMPLATE_ID='174779_ABC12_000047035800_F7'
- TRACE: TEMPLATE_ID='174779_ABC12_000049051000_O24'
- TRACE: TEMPLATE_ID='174779_ABC12_000049070800_F15'
- Overlapping Genes
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: 331 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7370 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 64,430,752 | 64,515,792 |
| nsv7370 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 63,726,579 | 63,811,619 |
| nsv7370 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 63,762,335 | 63,847,375 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv9411 | inversion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv3357 | inversion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv9669 | inversion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv4842 | inversion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv10455 | inversion | NA18956 | Sequencing | Paired-end mapping | 905 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv9411 | Remapped | Perfect | NC_000005.10:g.(64 430752_?)_(?_64475 834)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,430,752 | 64,475,834 |
| nssv3357 | Remapped | Perfect | NC_000005.10:g.(64 433795_?)_(?_64473 827)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,433,795 | 64,473,827 |
| nssv9669 | Remapped | Perfect | NC_000005.10:g.(64 471457_?)_(?_64512 992)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,471,457 | 64,512,992 |
| nssv4842 | Remapped | Perfect | NC_000005.10:g.(64 472952_?)_(?_64514 528)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,472,952 | 64,514,528 |
| nssv10455 | Remapped | Perfect | NC_000005.10:g.(64 473227_?)_(?_64515 792)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,473,227 | 64,515,792 |
| nssv9411 | Remapped | Perfect | NC_000005.9:g.(637 26579_?)_(?_637716 61)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 63,726,579 | 63,771,661 |
| nssv3357 | Remapped | Perfect | NC_000005.9:g.(637 29622_?)_(?_637696 54)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 63,729,622 | 63,769,654 |
| nssv9669 | Remapped | Perfect | NC_000005.9:g.(637 67284_?)_(?_638088 19)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 63,767,284 | 63,808,819 |
| nssv4842 | Remapped | Perfect | NC_000005.9:g.(637 68779_?)_(?_638103 55)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 63,768,779 | 63,810,355 |
| nssv10455 | Remapped | Perfect | NC_000005.9:g.(637 69054_?)_(?_638116 19)inv | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 63,769,054 | 63,811,619 |
| nssv9411 | Submitted genomic | NC_000005.8:g.(637 62335_?)_(?_638074 17)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 63,762,335 | 63,807,417 | ||
| nssv3357 | Submitted genomic | NC_000005.8:g.(637 65378_?)_(?_638054 10)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 63,765,378 | 63,805,410 | ||
| nssv9669 | Submitted genomic | NC_000005.8:g.(638 03040_?)_(?_638445 75)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 63,803,040 | 63,844,575 | ||
| nssv4842 | Submitted genomic | NC_000005.8:g.(638 04535_?)_(?_638461 11)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 63,804,535 | 63,846,111 | ||
| nssv10455 | Submitted genomic | NC_000005.8:g.(638 04810_?)_(?_638473 75)inv | NCBI35 (hg17) | NC_000005.8 | Chr5 | 63,804,810 | 63,847,375 |