A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090



Internal ID15541373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105861300..106646063hg38UCSC Ensembl
Outerchr14:106327510..107102066hg19UCSC Ensembl
Outerchr14:105398555..106173111hg18UCSC Ensembl
Outerchr14:105398555..106173111hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38784764
hg19774557
hg18774557
hg17774557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1443
Supporting Variants
SamplesNA18555
Known GenesADAM6, KIAA0125, LINC00221, LINC00226
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)nssv2090
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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