A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6986



Internal ID15190192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41571809..41602871hg38UCSC Ensembl
Outerchr22:41967813..41998875hg19UCSC Ensembl
Outerchr22:40297759..40328821hg18UCSC Ensembl
Outerchr22:40292313..40323375hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388374
hg198374
hg188374
hg178374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3639
Supporting Variants
SamplesNA12156
Known GenesCSDC2, DESI1, PMM1
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)nssv6986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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