A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3084



Internal ID15194205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35897775..35931829hg38UCSC Ensembl
Outerchr22:36293823..36327877hg19UCSC Ensembl
Outerchr22:34623769..34657823hg18UCSC Ensembl
Outerchr22:34618323..34652377hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385977
hg195977
hg185977
hg175977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3613
Supporting Variants
SamplesNA18555
Known GenesRBFOX2
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)nssv3084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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