A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508838



Internal ID15824864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54937847..54954601hg38UCSC Ensembl
Outerchr2:55164984..55181738hg19UCSC Ensembl
Outerchr2:55018488..55035242hg18UCSC Ensembl
Outerchr2:55076635..55093389hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383657
hg193657
hg183657
hg173657
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619901, nssv621166
SamplesNA15510, NA10860
Known GenesEML6
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)nsv508838
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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