A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3081



Internal ID15194208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30050782..30071445hg38UCSC Ensembl
Outerchr22:30446771..30467434hg19UCSC Ensembl
Outerchr22:28776771..28797434hg18UCSC Ensembl
Outerchr22:28771325..28791988hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386673
hg196673
hg186673
hg176673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3592
Supporting Variants
SamplesNA18555
Known Genes
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)nssv3081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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