A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547342



Internal ID15988065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107861418..107862112hg38UCSC Ensembl
Innerchr1:108404040..108404734hg19UCSC Ensembl
Innerchr1:108205563..108206257hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471n54
Supporting Variantsnssv720741
Samples
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547342
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer