A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2027



Internal ID15541310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31948356..31966208hg38UCSC Ensembl
Outerchr13:32522493..32540345hg19UCSC Ensembl
Outerchr13:31420493..31438345hg18UCSC Ensembl
Outerchr13:31420493..31438345hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3817853
hg1917853
hg1817853
hg1717853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv990
Supporting Variants
SamplesNA18555
Known GenesEEF1DP3
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)nssv2027
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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