A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595581



Internal ID16382990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:138943445..138988560hg38UCSC Ensembl
Innerchr4:139864599..139909714hg19UCSC Ensembl
Innerchr4:140084049..140129164hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3845116
hg1945116
hg1845116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153514
SamplesHGDP00197
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595581
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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