A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976



Internal ID15552997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29185321..29230009hg38UCSC Ensembl
Outerchr13:29759458..29804146hg19UCSC Ensembl
Outerchr13:28657458..28702146hg18UCSC Ensembl
Outerchr13:28657458..28702146hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3844689
hg1944689
hg1844689
hg1744689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9097
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)nsv976
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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