A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978



Internal ID15552999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29354771..29400321hg38UCSC Ensembl
Outerchr13:29928908..29974458hg19UCSC Ensembl
Outerchr13:28826908..28872458hg18UCSC Ensembl
Outerchr13:28826908..28872458hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3845551
hg1945551
hg1845551
hg1745551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6553
SamplesNA12156
Known GenesMTUS2
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)nsv978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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