A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054778



Internal ID18797309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21294781..21334420hg38UCSC Ensembl
Innerchr14:21762940..21802579hg19UCSC Ensembl
Innerchr14:20832780..20872419hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3839640
hg1939640
hg1839640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712157
Samples
Known GenesRPGRIP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054778
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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