A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573738



Internal ID16014461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89549357..89625890hg38UCSC Ensembl
Innerchr16:89615765..89692298hg19UCSC Ensembl
Innerchr16:88143266..88219799hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3876534
hg1976534
hg1876534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv863334
Samples
Known GenesCPNE7, DPEP1, RPL13, SNORD68, SPG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573738
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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