A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547354



Internal ID15988077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107861834..107862466hg38UCSC Ensembl
Innerchr1:108404456..108405088hg19UCSC Ensembl
Innerchr1:108205979..108206611hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720822, nssv720823
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547354
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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