A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033578



Internal ID18776111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62310783..62615326hg38UCSC Ensembl
Innerchr5:61606610..61911153hg19UCSC Ensembl
Innerchr5:61642367..61946909hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38304544
hg19304544
hg18304543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5690n100
Supporting Variantsnssv3747232
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033578
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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