A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571490



Internal ID16012213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:13200753..13206350hg38UCSC Ensembl
Innerchr16:13294610..13300207hg19UCSC Ensembl
Innerchr16:13202111..13207708hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg385598
hg195598
hg185598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4914n54
Supporting Variantsnssv852735, nssv852734
Samples
Known GenesSHISA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571490
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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