A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602832



Internal ID16043555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33414464..33552444hg38UCSC Ensembl
Innerchr6:33382241..33520221hg19UCSC Ensembl
Innerchr6:33490219..33628199hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38137981
hg19137981
hg18137981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1057645
Samples
Known GenesCUTA, MIR5004, PHF1, SYNGAP1, ZBTB9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602832
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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