A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623850



Internal ID15475737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:17726193..17855296hg38UCSC Ensembl
Outerchr11:17747740..17876843hg19UCSC Ensembl
Outerchr11:17704316..17833419hg18UCSC Ensembl
Outerchr11:17704316..17833419hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg386904
hg196904
hg186904
hg176904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509390
Supporting Variants
SamplesNA18994
Known GenesKCNC1, SERGEF
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)nssv623850
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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