A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997304



Internal ID19156842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:95654047..95940198hg38UCSC Ensembl
Innerchr4:96575198..96861349hg19UCSC Ensembl
Innerchr4:96794221..97080372hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38286152
hg19286152
hg18286152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3630984
Samples
Known GenesPDHA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997304
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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