A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014231



Internal ID19103452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76315455..76414945hg38UCSC Ensembl
Innerchr1:76781140..76880630hg19UCSC Ensembl
Innerchr1:76553728..76653218hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3899491
hg1999491
hg1899491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv198n100
Supporting Variantsnssv3476641
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014231
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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