A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050067



Internal ID19139286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63599815..63831177hg38UCSC Ensembl
Innerchr13:64173948..64405310hg19UCSC Ensembl
Innerchr13:63071949..63303311hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38231363
hg19231363
hg18231363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526609, nssv3711772
Samples
Known GenesLINC00395, OR7E156P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050067
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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