A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114191



Internal ID21297457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32641069..33483174hg38UCSC Ensembl
Innerchr6:32608846..33450951hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38842106
hg19842106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14083137
Samplessample371
Known GenesB3GALT4, BRD2, COL11A2, CUTA, DAXX, HCG25, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HSD17B8, KIFC1, LOC100294145, MIR219-1, MIR5004, MIR6834, MIR6873, PFDN6, PHF1, PSMB8, PSMB9, RGL2, RING1, RPS18, RXRB, SLC39A7, SYNGAP1, TAP1, TAP2, TAPBP, TAPSAR1, VPS52, WDR46, ZBTB22, ZBTB9
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114191
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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