A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530



Internal ID15548149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:41902070..41950592hg38UCSC Ensembl
Outerchr21:43322179..43370701hg19UCSC Ensembl
Outerchr21:42195248..42243770hg18UCSC Ensembl
Outerchr21:42195248..42243770hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3848523
hg1948523
hg1848523
hg1748523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11045
SamplesNA15510
Known GenesC2CD2
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)nsv3530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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