A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591411



Internal ID16378820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448402..123449154hg38UCSC Ensembl
Innerchr3:123167249..123168001hg19UCSC Ensembl
Innerchr3:124649939..124650691hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38753
hg19753
hg18753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971774
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591411
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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