A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056574



Internal ID18799105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56495687..56761211hg38UCSC Ensembl
Innerchr20:55070743..55336267hg19UCSC Ensembl
Innerchr20:54504150..54769674hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38265525
hg19265525
hg18265525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584235
Samples
Known GenesFAM209A, FAM209B, GCNT7, RTFDC1, TFAP2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056574
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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