A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv993



Internal ID15553014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:33387702..33432559hg38UCSC Ensembl
Outerchr13:33961839..34006696hg19UCSC Ensembl
Outerchr13:32859839..32904696hg18UCSC Ensembl
Outerchr13:32859839..32904696hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3844858
hg1944858
hg1844858
hg1744858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9107
SamplesNA12156
Known GenesSTARD13
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)nsv993
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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