A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508199



Internal ID15479875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218498866..218548908hg38UCSC Ensembl
Outerchr2:219363589..219413631hg19UCSC Ensembl
Outerchr2:219071833..219121875hg18UCSC Ensembl
Outerchr2:219189094..219239136hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3850043
hg1950043
hg1850043
hg1750043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620201
SamplesNA15510
Known GenesUSP37
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)nsv508199
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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