A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2344



Internal ID15540796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14425997..14442048hg38UCSC Ensembl
Outerchr21:15798318..15814369hg19UCSC Ensembl
Outerchr21:14720189..14736240hg18UCSC Ensembl
Outerchr21:14720189..14736240hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3812931
hg1912931
hg1812931
hg1712931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3456
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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