A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3512



Internal ID15201443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37170163..37215452hg38UCSC Ensembl
Outerchr21:38542465..38587753hg19UCSC Ensembl
Outerchr21:37464335..37509623hg18UCSC Ensembl
Outerchr21:37464335..37509623hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3845290
hg1945289
hg1845289
hg1745289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7723
SamplesNA12156
Known GenesDSCR9, TTC3
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)nsv3512
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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