A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597112



Internal ID16037835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10236924..10262046hg38UCSC Ensembl
Innerchr5:10237036..10262158hg19UCSC Ensembl
Innerchr5:10290036..10315158hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3825123
hg1925123
hg1825123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153035
SamplesHGDP01383
Known GenesCCT5, FAM173B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597112
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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