A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351



Internal ID15194103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43547459..43593223hg38UCSC Ensembl
Outerchr21:44967340..45013104hg19UCSC Ensembl
Outerchr21:43791768..43837532hg18UCSC Ensembl
Outerchr21:43791768..43837532hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3845765
hg1945765
hg1845765
hg1745765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3537
Supporting Variants
SamplesNA18555
Known GenesHSF2BP
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)nssv2351
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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