A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5500



Internal ID15197280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49753587..49780153hg38UCSC Ensembl
Outerchr14:50220305..50246871hg19UCSC Ensembl
Outerchr14:49290055..49316621hg18UCSC Ensembl
Outerchr14:49290055..49316621hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387858
hg197858
hg187858
hg177858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1269
Supporting Variants
SamplesNA19129
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)nssv5500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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