A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10018



Internal ID15196093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66934652..66953889hg38UCSC Ensembl
Outerchr14:67401369..67420606hg19UCSC Ensembl
Outerchr14:66471122..66490359hg18UCSC Ensembl
Outerchr14:66471122..66490359hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg387324
hg197324
hg187324
hg177324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1317
Supporting Variants
SamplesNA18956
Known GenesGPHN
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)nssv10018
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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