A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547422



Internal ID16334831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108826140..108829252hg38UCSC Ensembl
Innerchr1:109368762..109371874hg19UCSC Ensembl
Innerchr1:109170285..109173397hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383113
hg193113
hg183113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488n54
Supporting Variantsnssv721161, nssv721160, nssv721162, nssv721163
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547422
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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