A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594053



Internal ID16034776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40681959..40776145hg38UCSC Ensembl
Innerchr4:40683976..40778162hg19UCSC Ensembl
Innerchr4:40378733..40472919hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3894187
hg1994187
hg1894187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9023n54
Supporting Variantsnssv1152674, nssv996674
SamplesNINDS_41
Known GenesNSUN7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594053
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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