A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3258



Internal ID15201163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2091289..2124098hg38UCSC Ensembl
Outerchr20:2071935..2104744hg19UCSC Ensembl
Outerchr20:2019935..2052744hg18UCSC Ensembl
Outerchr20:2019935..2052744hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386614
hg196614
hg186614
hg176614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6925
SamplesNA12156
Known GenesSTK35
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)nsv3258
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