A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4517



Internal ID15192558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1873235..1877863hg38UCSC Ensembl
Outerchr20:1853881..1858509hg19UCSC Ensembl
Outerchr20:1801881..1806509hg18UCSC Ensembl
Outerchr20:1801881..1806509hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386303
hg196303
hg186303
hg176303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3257
Supporting Variants
SamplesNA12878
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)nssv4517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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