A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3468771



Internal ID18716335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31875658..32027775hg38UCSC Ensembl
Innerchr1:32341259..32493376hg19UCSC Ensembl
Innerchr1:32113846..32265963hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38152118
hg19152118
hg18152118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009817
Supporting Variants
Samples
Known GenesKHDRBS1, PTP4A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3468771
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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