A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594013



Internal ID16381422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39044710..39045265hg38UCSC Ensembl
Innerchr4:39046330..39046885hg19UCSC Ensembl
Innerchr4:38722725..38723280hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38556
hg19556
hg18556
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995934, nssv995935, nssv995933, nssv995932, nssv995936, nssv995931
Samples
Known GenesKLHL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594013
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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