A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1202



Internal ID15197843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66936840..66965851hg38UCSC Ensembl
Outerchr14:67403557..67432568hg19UCSC Ensembl
Outerchr14:66473310..66502321hg18UCSC Ensembl
Outerchr14:66473310..66502321hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386695
hg196695
hg186695
hg176695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1317
Supporting Variants
SamplesNA19240
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)nssv1202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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