A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1190



Internal ID15197856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49744305..49762462hg38UCSC Ensembl
Outerchr14:50211023..50229180hg19UCSC Ensembl
Outerchr14:49280773..49298930hg18UCSC Ensembl
Outerchr14:49280773..49298930hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389431
hg199431
hg189431
hg179431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1269
Supporting Variants
SamplesNA19240
Known GenesKLHDC1
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)nssv1190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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