A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000105



Internal ID19089322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91426526..91741775hg38UCSC Ensembl
Innerchr2:91618895..91929801hg19UCSC Ensembl
Innerchr2:90982622..91293528hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38315250
hg19310907
hg18310907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3992n100
Supporting Variantsnssv3579442
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000105
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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