A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604599



Internal ID16392008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125060977..125091085hg38UCSC Ensembl
Innerchr6:125382123..125412231hg19UCSC Ensembl
Innerchr6:125423822..125453930hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3830109
hg1930109
hg1830109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072397
Samples
Known GenesRNF217
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604599
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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