A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595698



Internal ID16036421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150959613..150963161hg38UCSC Ensembl
Innerchr4:151880765..151884313hg19UCSC Ensembl
Innerchr4:152100215..152103763hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg383549
hg193549
hg183549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9313n54
Supporting Variantsnssv1009414, nssv1009413
Samples
Known GenesLRBA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595698
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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