A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571820



Internal ID16012543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30892358..31180161hg38UCSC Ensembl
Innerchr16:30903679..31191482hg19UCSC Ensembl
Innerchr16:30811180..31098983hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38287804
hg19287804
hg18287804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149169
SamplesNINDS_207
Known GenesBCKDK, BCL7C, CTF1, FBXL19, FBXL19-AS1, FUS, HSD3B7, KAT8, MIR762, ORAI3, PRSS36, PRSS53, PRSS8, SETD1A, STX1B, STX4, VKORC1, ZNF646, ZNF668
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571820
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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