A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598348



Internal ID16385757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62355016..62599297hg38UCSC Ensembl
Innerchr5:61650843..61895124hg19UCSC Ensembl
Innerchr5:61686600..61930880hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38244282
hg19244282
hg18244281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034350
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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