A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3457



Internal ID15548068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14624534..14670028hg38UCSC Ensembl
Outerchr21:15996855..16042349hg19UCSC Ensembl
Outerchr21:14918726..14964220hg18UCSC Ensembl
Outerchr21:14918726..14964220hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3845495
hg1945495
hg1845495
hg1745495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6953
SamplesNA12156
Known GenesLOC388813
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)nsv3457
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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