A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547352



Internal ID15988075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107861659..107862728hg38UCSC Ensembl
Innerchr1:108404281..108405350hg19UCSC Ensembl
Innerchr1:108205804..108206873hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv472n54
Supporting Variantsnssv720820, nssv720817, nssv720819, nssv720818
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547352
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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