A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599934



Internal ID16387343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:145688438..145764212hg38UCSC Ensembl
Innerchr5:145068001..145143775hg19UCSC Ensembl
Innerchr5:145048194..145123968hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3875775
hg1975775
hg1875775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153600
SamplesHGDP01010
Known GenesPRELID2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599934
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