A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599937



Internal ID16387346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146242909..146307732hg38UCSC Ensembl
Innerchr5:145622472..145687295hg19UCSC Ensembl
Innerchr5:145602665..145667488hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3864824
hg1964824
hg1864824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153603
Samples1780862304_A
Known GenesRBM27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599937
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