A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2070



Internal ID15541353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35129821..35156155hg38UCSC Ensembl
Outerchr14:35599027..35625361hg19UCSC Ensembl
Outerchr14:34668778..34695112hg18UCSC Ensembl
Outerchr14:34668778..34695112hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3826335
hg1926335
hg1826335
hg1726335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1240
Supporting Variants
SamplesNA18555
Known GenesKIAA0391
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)nssv2070
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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