A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4565



Internal ID15192606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46289442..46321516hg38UCSC Ensembl
Outerchr21:47709356..47741430hg19UCSC Ensembl
Outerchr21:46533784..46565858hg18UCSC Ensembl
Outerchr21:46533784..46565858hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386490
hg196490
hg186490
hg176490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547
Supporting Variants
SamplesNA12878
Known GenesC21orf58, YBEY
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)nssv4565
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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