A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595426



Internal ID16382835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131025220..131426734hg38UCSC Ensembl
Innerchr4:131946375..132347889hg19UCSC Ensembl
Innerchr4:132165825..132567339hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38401515
hg19401515
hg18401515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9266n54
Supporting Variantsnssv1006493, nssv1152953
Samples1780862457_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595426
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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