A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591806



Internal ID16032529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133413652..133418172hg38UCSC Ensembl
Innerchr3:133132496..133137016hg19UCSC Ensembl
Innerchr3:134615186..134619706hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384521
hg194521
hg184521
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8608n54
Supporting Variantsnssv974205, nssv974206, nssv974202, nssv974207, nssv974204, nssv974203
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591806
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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