A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620824



Internal ID15473490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72573921..72604515hg38UCSC Ensembl
Outerchr11:72284965..72315559hg19UCSC Ensembl
Outerchr11:71962613..71993207hg18UCSC Ensembl
Outerchr11:71962613..71993207hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383169
hg193169
hg183169
hg173169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509429
Supporting Variants
SamplesNA15510
Known GenesPDE2A
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)nssv620824
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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