A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003721



Internal ID18746252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36716795..36849794hg38UCSC Ensembl
Innerchr1:37182396..37315395hg19UCSC Ensembl
Innerchr1:36954983..37087982hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38133000
hg19133000
hg18133000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700647
Samples
Known GenesGRIK3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003721
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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