A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3482



Internal ID15548096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:26818978..26849656hg38UCSC Ensembl
Outerchr21:28191297..28221975hg19UCSC Ensembl
Outerchr21:27113168..27143846hg18UCSC Ensembl
Outerchr21:27113168..27143846hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3830679
hg1930679
hg1830679
hg1730679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4661
SamplesNA19129
Known GenesADAMTS1
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)nsv3482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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