A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535



Internal ID15201468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43158604..43185615hg38UCSC Ensembl
Outerchr21:44578714..44605725hg19UCSC Ensembl
Outerchr21:43451783..43478794hg18UCSC Ensembl
Outerchr21:43451783..43478794hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388716
hg198716
hg188716
hg178716
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6960
SamplesNA12156
Known GenesCRYAA
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)nsv3535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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