A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508875



Internal ID15824901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157912271..157933473hg38UCSC Ensembl
Outerchr2:158768783..158789985hg19UCSC Ensembl
Outerchr2:158477029..158498231hg18UCSC Ensembl
Outerchr2:158594291..158615493hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383988
hg193988
hg183988
hg173988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619293, nssv623877, nssv621179, nssv618011
SamplesCHM, NA15510, NA18994, NA10860
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)nsv508875
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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