A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598815



Internal ID16386224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84722520..84816106hg38UCSC Ensembl
Innerchr5:84018338..84111924hg19UCSC Ensembl
Innerchr5:84054094..84147680hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3893587
hg1993587
hg1893587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9914n54
Supporting Variantsnssv1153952
SamplesHGDP00230
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598815
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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