A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003386



Internal ID18745917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76839512..76909851hg38UCSC Ensembl
Innerchr1:77305197..77375536hg19UCSC Ensembl
Innerchr1:77077785..77148124hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870340
hg1970340
hg1870340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469166
Samples
Known GenesST6GALNAC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003386
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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