A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017056



Internal ID18759591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163328870..163804011hg38UCSC Ensembl
Innerchr5:162755876..163231017hg19UCSC Ensembl
Innerchr5:162688454..163163595hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38475142
hg19475142
hg18475142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648240
Samples
Known GenesCCNG1, HMMR, MAT2B, NUDCD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017056
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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