A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598675



Internal ID16386084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75521024..75535790hg38UCSC Ensembl
Innerchr5:74816849..74831615hg19UCSC Ensembl
Innerchr5:74852605..74867371hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814767
hg1914767
hg1814767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9883n54
Supporting Variantsnssv1035136
Samples
Known GenesPOLK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598675
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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