A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595619



Internal ID16036342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144093385..144122057hg38UCSC Ensembl
Innerchr4:145014538..145043210hg19UCSC Ensembl
Innerchr4:145233988..145262660hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3828673
hg1928673
hg1828673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9298n54
Supporting Variantsnssv1008567
Samples
Known GenesGYPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595619
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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