A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603000



Internal ID16043723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43397622..43524840hg38UCSC Ensembl
Innerchr6:43365360..43492578hg19UCSC Ensembl
Innerchr6:43473338..43600556hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38127219
hg19127219
hg18127219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058422
Samples
Known GenesABCC10, DLK2, LRRC73, MIR6780B, POLR1C, TJAP1, XPO5, YIPF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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