A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746683



Internal ID18698278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178151193..178206115hg38UCSC Ensembl
Innerchr5:177578194..177633116hg19UCSC Ensembl
Innerchr5:177510800..177565722hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3854923
hg1954923
hg1854923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017664
Supporting Variants
Samples
Known GenesGMCL1P1, HNRNPAB, NHP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746683
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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