A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000078



Internal ID19089295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78182882..78433039hg38UCSC Ensembl
Innerchr2:78410008..78660165hg19UCSC Ensembl
Innerchr2:78263516..78513673hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38250158
hg19250158
hg18250158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3880n100
Supporting Variantsnssv3732000
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)nsv1000078
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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