A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002231



Internal ID18744763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165787737..165884781hg38UCSC Ensembl
Innerchr3:165505525..165602569hg19UCSC Ensembl
Innerchr3:166988219..167085263hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3897045
hg1997045
hg1897045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4977n100
Supporting Variantsnssv3612681
Samples
Known GenesBCHE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002231
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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