A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373



Internal ID15201290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38841749..38882861hg38UCSC Ensembl
Outerchr20:37470392..37511504hg19UCSC Ensembl
Outerchr20:36903806..36944918hg18UCSC Ensembl
Outerchr20:36903806..36944918hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg385408
hg195408
hg185408
hg175408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7678, nssv11036
SamplesNA15510, NA12156
Known GenesPPP1R16B
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)nsv3373
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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