A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3488



Internal ID15548102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29246080..29290472hg38UCSC Ensembl
Outerchr21:30618401..30662793hg19UCSC Ensembl
Outerchr21:29540272..29584664hg18UCSC Ensembl
Outerchr21:29540272..29584664hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3844393
hg1944393
hg1844393
hg1744393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4662
SamplesNA19129
Known GenesLINC00189
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)nsv3488
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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