A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009749



Internal ID19098968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194047718..194111613hg38UCSC Ensembl
Innerchr2:194912442..194976337hg19UCSC Ensembl
Innerchr2:194620687..194684582hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3863896
hg1963896
hg1863896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4144n100
Supporting Variantsnssv3583926
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009749
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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