A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119076



Internal ID18907019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32595823..33480623hg38UCSC Ensembl
Outerchr6:32563600..33448400hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38884801
hg19884801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981876
SamplesKWS1
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
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119076
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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