A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009240



Internal ID19098458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71545591..71594717hg38UCSC Ensembl
Innerchr2:71772721..71821847hg19UCSC Ensembl
Innerchr2:71626229..71675355hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3849127
hg1949127
hg1849127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3865n100
Supporting Variantsnssv3577296
Samples
Known GenesDYSF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009240
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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