A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3060



Internal ID15540915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19591197..19625168hg38UCSC Ensembl
Outerchr20:19571841..19605812hg19UCSC Ensembl
Outerchr20:19519841..19553812hg18UCSC Ensembl
Outerchr20:19519841..19553812hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg386055
hg196055
hg186055
hg176055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3316
Supporting Variants
SamplesNA18555
Known GenesSLC24A3
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)nssv3060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer