A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065400



Internal ID18807931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87725235..87842257hg38UCSC Ensembl
Innerchr16:87758841..87875863hg19UCSC Ensembl
Innerchr16:86316342..86433364hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38117023
hg19117023
hg18117023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3062n100
Supporting Variantsnssv3559980
Samples
Known GenesKLHDC4, MIR6775, SLC7A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065400
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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