A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598676



Internal ID16039399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76093009..76238745hg38UCSC Ensembl
Innerchr5:75388834..75534570hg19UCSC Ensembl
Innerchr5:75424590..75570326hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38145737
hg19145737
hg18145737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035137
Samples
Known GenesSV2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598676
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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