A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035309



Internal ID15541809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81207709..81303759hg38UCSC Ensembl
Innerchr5:80503528..80599578hg19UCSC Ensembl
Innerchr5:80539284..80635334hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3896051
hg1996051
hg1896051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598750
Supporting Variants
Samples
Known GenesCKMT2, CKMT2-AS1, RASGRF2, RNU5D-1, RNU5E-1, ZCCHC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1035309
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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