A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013643



Internal ID19102862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91426526..91902847hg38UCSC Ensembl
Innerchr2:91618895..92090873hg19UCSC Ensembl
Innerchr2:90982622..91454600hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38476322
hg19471979
hg18471979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3993n100
Supporting Variantsnssv3729114
Samples
Known GenesGGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013643
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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