A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525425



Internal ID15106032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56403979..56897294hg38UCSC Ensembl
Innerchr20:54979035..55472350hg19UCSC Ensembl
Innerchr20:54412442..54905757hg18UCSC Ensembl
Innerchr20:54412442..54905757hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38493316
hg19493316
hg18493316
hg17493316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701549
Samples
Known GenesCASS4, CSTF1, FAM209A, FAM209B, GCNT7, RTFDC1, TFAP2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525425
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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