A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006364



Internal ID19095581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48869000..48920233hg38UCSC Ensembl
Innerchr2:49096139..49147372hg19UCSC Ensembl
Innerchr2:48949643..49000876hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3851234
hg1951234
hg1851234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581645
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)nsv1006364
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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