A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547337



Internal ID15988060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107629681..107649305hg38UCSC Ensembl
Innerchr1:108172303..108191927hg19UCSC Ensembl
Innerchr1:107973826..107993450hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819625
hg1919625
hg1819625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173101
SamplesHGDP00931
Known GenesVAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547337
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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