A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054003



Internal ID18796534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:33788101..34091373hg38UCSC Ensembl
Innerchr13:34362238..34665510hg19UCSC Ensembl
Innerchr13:33260238..33563510hg18UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38303273
hg19303273
hg18303273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523239
Samples
Known GenesRFC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054003
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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