A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547419



Internal ID16334828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108828918hg38UCSC Ensembl
Innerchr1:109367944..109371540hg19UCSC Ensembl
Innerchr1:109169467..109173063hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383597
hg193597
hg183597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488n54
Supporting Variantsnssv721124, nssv721125
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547419
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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