A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv991



Internal ID15198197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:6660591..6693515hg38UCSC Ensembl
Outerchr11:6681822..6714746hg19UCSC Ensembl
Outerchr11:6638398..6671322hg18UCSC Ensembl
Outerchr11:6638398..6671322hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388068
hg198068
hg188068
hg178068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7658
Supporting Variants
SamplesNA19240
Known GenesMRPL17
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)nssv991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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