A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746659



Internal ID18698254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163104166..164109116hg38UCSC Ensembl
Innerchr5:162531172..163536122hg19UCSC Ensembl
Innerchr5:162463750..163468700hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381004951
hg191004951
hg181004951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029437
Supporting Variants
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)nssv3746659
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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