nsv5741
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:73,101
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048021800_B20'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049492600_F12'
- TRACE: TEMPLATE_ID='1205559_ABC14_11_000008061249_H8'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000000886458_B17'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000000898758_C10'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050975300_J22'
- TRACE: TEMPLATE_ID='174779_ABC12_000046658200_P11'
- TRACE: TEMPLATE_ID='174779_ABC12_000049055600_G11'
- TRACE: TEMPLATE_ID='174779_ABC12_000049137600_D13'
- TRACE: TEMPLATE_ID='174779_ABC12_000049206800_C1'
- TRACE: TEMPLATE_ID='178925_ABC12_000047945700_D22'
- 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: 628 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 628 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 9 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5741 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 51,487,684 | 51,560,784 |
nsv5741 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 51,555,381 | 51,628,481 |
nsv5741 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 51,329,590 | 51,402,690 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv2649 | Remapped | Perfect | NC_000007.14:g.(51 487684_?)_(?_51533 393)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 51,487,684 | 51,533,393 |
nssv6126 | Remapped | Perfect | NC_000007.14:g.(51 521608_?)_(?_51560 784)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 51,521,608 | 51,560,784 |
nssv3528 | Remapped | Perfect | NC_000007.14:g.(51 525796_?)_(?_51545 544)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 51,525,796 | 51,545,544 |
nssv2649 | Remapped | Perfect | NC_000007.13:g.(51 555381_?)_(?_51601 090)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 51,555,381 | 51,601,090 |
nssv6126 | Remapped | Perfect | NC_000007.13:g.(51 589305_?)_(?_51628 481)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 51,589,305 | 51,628,481 |
nssv3528 | Remapped | Perfect | NC_000007.13:g.(51 593493_?)_(?_51613 241)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 51,593,493 | 51,613,241 |
nssv2649 | Submitted genomic | NC_000007.11:g.(51 329590_?)_(?_51375 299)del5678 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 51,329,590 | 51,375,299 | ||
nssv6126 | Submitted genomic | NC_000007.11:g.(51 363514_?)_(?_51402 690)del6471 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 51,363,514 | 51,402,690 | ||
nssv3528 | Submitted genomic | NC_000007.11:g.(51 367702_?)_(?_51387 450)del4968 | NCBI35 (hg17) | NC_000007.11 | Chr7 | 51,367,702 | 51,387,450 |