A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1341



Internal ID15545904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:71481869..71513924hg38UCSC Ensembl
Outerchr14:71948586..71980641hg19UCSC Ensembl
Outerchr14:71018339..71050394hg18UCSC Ensembl
Outerchr14:71018339..71050394hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg388934
hg198934
hg188934
hg178934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1209
SamplesNA19240
Known GenesLOC145474
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)nsv1341
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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