A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057351



Internal ID18799882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89610380..89707988hg38UCSC Ensembl
Innerchr16:89676788..89774396hg19UCSC Ensembl
Innerchr16:88204289..88301897hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3897609
hg1997609
hg1897609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560007
Samples
Known GenesCDK10, CHMP1A, DPEP1, SPATA2L, SPATA33, VPS9D1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057351
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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