A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639051



Internal ID18590646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79738839..79994005hg38UCSC Ensembl
Innerchr5:79034662..79289828hg19UCSC Ensembl
Innerchr5:79070418..79325584hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38255167
hg19255167
hg18255167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021113
Supporting Variants
Samples
Known GenesCMYA5, MTX3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639051
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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