A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10283



Internal ID15542515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9494287..9498012hg38UCSC Ensembl
Outerchr20:9474934..9478659hg19UCSC Ensembl
Outerchr20:9422934..9426659hg18UCSC Ensembl
Outerchr20:9422934..9426659hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg387298
hg197298
hg187298
hg177298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3285
Supporting Variants
SamplesNA18956
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)nssv10283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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