A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1316



Internal ID15199193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66685818..66716899hg38UCSC Ensembl
Outerchr14:67152536..67183617hg19UCSC Ensembl
Outerchr14:66222289..66253370hg18UCSC Ensembl
Outerchr14:66222289..66253370hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388926
hg198926
hg188926
hg178926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2078
SamplesNA18555
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)nsv1316
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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