A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597399



Internal ID16384808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18985993..19237596hg38UCSC Ensembl
Innerchr5:18986102..19237705hg19UCSC Ensembl
Innerchr5:19021859..19273462hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38251604
hg19251604
hg18251604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9639n54
Supporting Variantsnssv1152866
SamplesNINDS_91
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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