A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015036



Internal ID19104253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73612928..73663877hg38UCSC Ensembl
Innerchr2:73840055..73891004hg19UCSC Ensembl
Innerchr2:73693563..73744512hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3850950
hg1950950
hg1850950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3866n100
Supporting Variantsnssv3577307
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015036
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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