A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv336



Internal ID15201275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60046173..60075342hg38UCSC Ensembl
Outerchr11:59813646..59842815hg19UCSC Ensembl
Outerchr11:59570222..59599391hg18UCSC Ensembl
Outerchr11:59570222..59599391hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg385082
hg195082
hg185082
hg175082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956
SamplesNA12878
Known GenesMS4A3, OOSP2
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)nsv336
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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