A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1317



Internal ID15199194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66934652..66965851hg38UCSC Ensembl
Outerchr14:67401369..67432568hg19UCSC Ensembl
Outerchr14:66471122..66502321hg18UCSC Ensembl
Outerchr14:66471122..66502321hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg387324
hg197324
hg187324
hg177324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1202, nssv10018
SamplesNA18956, NA19240
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)nsv1317
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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