A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546



Internal ID15548166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46198359..46229316hg38UCSC Ensembl
Outerchr21:47618273..47649230hg19UCSC Ensembl
Outerchr21:46442701..46473658hg18UCSC Ensembl
Outerchr21:46442701..46473658hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388322
hg198322
hg188322
hg178322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5911
SamplesNA19129
Known GenesLSS, MCM3AP-AS1
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)nsv3546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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