A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999396



Internal ID19158933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71545591..71612684hg38UCSC Ensembl
Innerchr2:71772721..71839814hg19UCSC Ensembl
Innerchr2:71626229..71693322hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3867094
hg1967094
hg1867094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3865n100
Supporting Variantsnssv3577299, nssv3577298
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)nsv999396
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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