A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623472



Internal ID15822045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76572915..76651642hg38UCSC Ensembl
Outerchr11:76283959..76362686hg19UCSC Ensembl
Outerchr11:75961607..76040334hg18UCSC Ensembl
Outerchr11:75961607..76040334hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg383544
hg193544
hg183544
hg173544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509432
Supporting Variants
SamplesNA18994
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623472
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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