A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594044



Internal ID16381453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39983318..40185488hg38UCSC Ensembl
Innerchr4:39984938..40187108hg19UCSC Ensembl
Innerchr4:39661333..39863503hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38202171
hg19202171
hg18202171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153461
SamplesNINDS_78
Known GenesLOC344967, N4BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594044
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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