A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2923



Internal ID15194946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75761402..75767737hg38UCSC Ensembl
Outerchr14:76227745..76234080hg19UCSC Ensembl
Outerchr14:75297498..75303833hg18UCSC Ensembl
Outerchr14:75297498..75303833hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386488
hg196488
hg186488
hg176488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1358
Supporting Variants
SamplesNA18555
Known GenesTTLL5
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)nssv2923
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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