A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2347



Internal ID15540793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:34643489..34674221hg38UCSC Ensembl
Outerchr21:36015788..36046520hg19UCSC Ensembl
Outerchr21:34937658..34968390hg18UCSC Ensembl
Outerchr21:34937658..34968390hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg389280
hg199280
hg189280
hg179280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3501
Supporting Variants
SamplesNA18555
Known GenesCLIC6
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)nssv2347
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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