A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3518



Internal ID15201449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38809536..38843702hg38UCSC Ensembl
Outerchr21:40181460..40215626hg19UCSC Ensembl
Outerchr21:39103330..39137496hg18UCSC Ensembl
Outerchr21:39103330..39137496hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385862
hg195862
hg185862
hg175862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3075
SamplesNA18555
Known GenesETS2
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)nsv3518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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