A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1309



Internal ID15199186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64681609..64714932hg38UCSC Ensembl
Outerchr14:65148327..65181650hg19UCSC Ensembl
Outerchr14:64218080..64251403hg18UCSC Ensembl
Outerchr14:64218080..64251403hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385717
hg195717
hg185717
hg175717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5505
SamplesNA19129
Known GenesPLEKHG3
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)nsv1309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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