A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8975



Internal ID15534889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125749628..125782762hg38UCSC Ensembl
Outerchr11:125619523..125652657hg19UCSC Ensembl
Outerchr11:125124733..125157867hg18UCSC Ensembl
Outerchr11:125124733..125157867hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg386292
hg196292
hg186292
hg176292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv534
Supporting Variants
SamplesNA12156
Known GenesPATE1, PATE2
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)nssv8975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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