A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009400



Internal ID18751931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44247339..44295858hg38UCSC Ensembl
Innerchr3:44288831..44337350hg19UCSC Ensembl
Innerchr3:44263835..44312354hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3848520
hg1948520
hg1848520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4729n100
Supporting Variantsnssv3589735
Samples
Known GenesTOPAZ1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009400
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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