A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547420



Internal ID16334829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108829218hg38UCSC Ensembl
Innerchr1:109367944..109371840hg19UCSC Ensembl
Innerchr1:109169467..109173363hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383897
hg193897
hg183897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488n54
Supporting Variantsnssv721126
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547420
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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