A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598674



Internal ID16386083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75521024..75535673hg38UCSC Ensembl
Innerchr5:74816849..74831498hg19UCSC Ensembl
Innerchr5:74852605..74867254hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814650
hg1914650
hg1814650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9883n54
Supporting Variantsnssv1035135
Samples
Known GenesPOLK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598674
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer