A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6980



Internal ID15190198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33593077..33625688hg38UCSC Ensembl
Outerchr22:33989063..34021672hg19UCSC Ensembl
Outerchr22:32319063..32351672hg18UCSC Ensembl
Outerchr22:32313617..32346226hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386828
hg196828
hg186828
hg176828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3604
Supporting Variants
SamplesNA12156
Known GenesLARGE
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)nssv6980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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