A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4634



Internal ID15543316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80253135..80295161hg38UCSC Ensembl
Outerchr14:80719478..80761504hg19UCSC Ensembl
Outerchr14:79789231..79831257hg18UCSC Ensembl
Outerchr14:79789231..79831257hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3842027
hg1942027
hg1842027
hg1742027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1371
Supporting Variants
SamplesNA19129
Known GenesDIO2-AS1
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)nssv4634
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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