A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5525



Internal ID15543936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103040991..103073528hg38UCSC Ensembl
Outerchr14:103507328..103539865hg19UCSC Ensembl
Outerchr14:102577081..102609618hg18UCSC Ensembl
Outerchr14:102577081..102609618hg17UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg386742
hg196742
hg186742
hg176742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1431
Supporting Variants
SamplesNA19129
Known GenesCDC42BPB
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)nssv5525
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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