nsv4230
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:54,241
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047213700_L4'
- TRACE: TEMPLATE_ID='1200277_ABC11_000048001800_I14'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000047380000_H20'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048011300_N12'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048271200_C21'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049530100_P2'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049605100_D14'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049605400_A10'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047547700_E19'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047600900_K4'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000907822_I20'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048835300_K4'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048839200_B2'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000987214_H9'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050161900_M17'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050168300_E23'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050412600_B22'
- TRACE: TEMPLATE_ID='169795_ABC9_2_2_000004584673_K19'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043816800_I19'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043860900_I16'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000046008700_G23'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000044044700_B11'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045524400_B2'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043348000_M3'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000046273400_C24'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044374700_O16'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000046307800_C9'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000048935200_M19'
- TRACE: TEMPLATE_ID='174779_ABC12_000046656700_J16'
- TRACE: TEMPLATE_ID='174779_ABC12_000046660100_N5'
- TRACE: TEMPLATE_ID='174779_ABC12_000049022900_H18'
- TRACE: TEMPLATE_ID='174779_ABC12_000049172200_D20'
- TRACE: TEMPLATE_ID='178925_ABC12_000047944200_C12'
- TRACE: TEMPLATE_ID='G248P801721H3'
- TRACE: TEMPLATE_ID='G248P85341B2'
- TRACE: TEMPLATE_ID='G248P86163C7'
- TRACE: TEMPLATE_ID='G248P86565B12'
- 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: 1059 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1059 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,196,999 | 10,251,239 |
| nsv4230 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 10,198,623 | 10,252,863 |
| nsv4230 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 9,874,892 | 9,929,132 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv11081 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
| nssv7066 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv3235 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv2450 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv369 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv10397 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv4727 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv11081 | Remapped | Perfect | NC_000004.12:g.(10 196999_?)_(?_10236 935)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,196,999 | 10,236,935 |
| nssv7066 | Remapped | Perfect | NC_000004.12:g.(10 202631_?)_(?_10236 752)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,202,631 | 10,236,752 |
| nssv3235 | Remapped | Perfect | NC_000004.12:g.(10 203133_?)_(?_10251 239)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,203,133 | 10,251,239 |
| nssv2450 | Remapped | Perfect | NC_000004.12:g.(10 204044_?)_(?_10238 118)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,204,044 | 10,238,118 |
| nssv369 | Remapped | Perfect | NC_000004.12:g.(10 206451_?)_(?_10236 744)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,206,451 | 10,236,744 |
| nssv10397 | Remapped | Perfect | NC_000004.12:g.(10 206495_?)_(?_10235 019)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,206,495 | 10,235,019 |
| nssv4727 | Remapped | Perfect | NC_000004.12:g.(10 207190_?)_(?_10246 644)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,207,190 | 10,246,644 |
| nssv11081 | Remapped | Perfect | NC_000004.11:g.(10 198623_?)_(?_10238 559)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,198,623 | 10,238,559 |
| nssv7066 | Remapped | Perfect | NC_000004.11:g.(10 204255_?)_(?_10238 376)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,204,255 | 10,238,376 |
| nssv3235 | Remapped | Perfect | NC_000004.11:g.(10 204757_?)_(?_10252 863)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,204,757 | 10,252,863 |
| nssv2450 | Remapped | Perfect | NC_000004.11:g.(10 205668_?)_(?_10239 742)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,205,668 | 10,239,742 |
| nssv369 | Remapped | Perfect | NC_000004.11:g.(10 208075_?)_(?_10238 368)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,208,075 | 10,238,368 |
| nssv10397 | Remapped | Perfect | NC_000004.11:g.(10 208119_?)_(?_10236 643)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,208,119 | 10,236,643 |
| nssv4727 | Remapped | Perfect | NC_000004.11:g.(10 208814_?)_(?_10248 268)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,208,814 | 10,248,268 |
| nssv11081 | Submitted genomic | NC_000004.9:g.(987 4892_?)_(?_9914828 )del22466 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,874,892 | 9,914,828 | ||
| nssv7066 | Submitted genomic | NC_000004.9:g.(988 0524_?)_(?_9914645 )del22750 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,880,524 | 9,914,645 | ||
| nssv3235 | Submitted genomic | NC_000004.9:g.(988 1026_?)_(?_9929132 )del24077 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,881,026 | 9,929,132 | ||
| nssv2450 | Submitted genomic | NC_000004.9:g.(988 1937_?)_(?_9916011 )del23229 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,881,937 | 9,916,011 | ||
| nssv369 | Submitted genomic | NC_000004.9:g.(988 4344_?)_(?_9914637 )del22847 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,884,344 | 9,914,637 | ||
| nssv10397 | Submitted genomic | NC_000004.9:g.(988 4388_?)_(?_9912912 )del24559 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,884,388 | 9,912,912 | ||
| nssv4727 | Submitted genomic | NC_000004.9:g.(988 5083_?)_(?_9924537 )del23958 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,885,083 | 9,924,537 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv10397 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv11081 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
| nssv10397 | 5 | NA18956 | Oligo aCGH | Probe signal intensity | Pass |