A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1180



Internal ID15197867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22622080..22642354hg38UCSC Ensembl
Outerchr14:23090983..23111555hg19UCSC Ensembl
Outerchr14:22160823..22181395hg18UCSC Ensembl
Outerchr14:22160823..22181395hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3820275
hg1920573
hg1820573
hg1720573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1212
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1180
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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