A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007312



Internal ID19096531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76317328..76355201hg38UCSC Ensembl
Innerchr2:76544454..76582327hg19UCSC Ensembl
Innerchr2:76397962..76435835hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3837874
hg1937874
hg1837874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3873n100
Supporting Variantsnssv3582006
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)nsv1007312
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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