A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595618



Internal ID16036341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144088649..144114635hg38UCSC Ensembl
Innerchr4:145009802..145035788hg19UCSC Ensembl
Innerchr4:145229252..145255238hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3825987
hg1925987
hg1825987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9298n54
Supporting Variantsnssv1008566
Samples
Known GenesGYPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595618
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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