A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3317



Internal ID15547914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19683495..19717278hg38UCSC Ensembl
Outerchr20:19664139..19697922hg19UCSC Ensembl
Outerchr20:19612139..19645922hg18UCSC Ensembl
Outerchr20:19612139..19645922hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg385492
hg195492
hg185492
hg175492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5874
SamplesNA19129
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)nsv3317
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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