A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1318



Internal ID15199195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67393582..67407079hg38UCSC Ensembl
Outerchr14:67860299..67873796hg19UCSC Ensembl
Outerchr14:66930052..66943549hg18UCSC Ensembl
Outerchr14:66930052..66943549hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg387688
hg197688
hg187688
hg177688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1203
SamplesNA19240
Known GenesPLEK2
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)nsv1318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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