A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9956



Internal ID15193362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49758863..49770999hg38UCSC Ensembl
Outerchr14:50225581..50237717hg19UCSC Ensembl
Outerchr14:49295331..49307467hg18UCSC Ensembl
Outerchr14:49295331..49307467hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387658
hg197658
hg187658
hg177658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1269
Supporting Variants
SamplesNA18507
Known GenesKLHDC2
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)nssv9956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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