A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5939



Internal ID15543435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:3177778..3211601hg38UCSC Ensembl
Outerchr3:3219462..3253285hg19UCSC Ensembl
Outerchr3:3194462..3228285hg18UCSC Ensembl
Outerchr3:3194462..3228285hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg385447
hg195447
hg185447
hg175447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3676
Supporting Variants
SamplesNA19129
Known GenesCRBN
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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