A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590030



Internal ID16377439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:30839805..30951091hg38UCSC Ensembl
Innerchr3:30881297..30992583hg19UCSC Ensembl
Innerchr3:30856301..30967587hg18UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38111287
hg19111287
hg18111287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152483
SamplesHGDP01168
Known GenesGADL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590030
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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