A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv994



Internal ID15206329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:33523264..33568921hg38UCSC Ensembl
Outerchr13:34097401..34143058hg19UCSC Ensembl
Outerchr13:32995401..33041058hg18UCSC Ensembl
Outerchr13:32995401..33041058hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3845658
hg1945658
hg1845658
hg1745658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9291
SamplesNA18517
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)nsv994
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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