A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508688



Internal ID15480364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207356868..207381104hg38UCSC Ensembl
Outerchr1:207530213..207554449hg19UCSC Ensembl
Outerchr1:205596836..205621072hg18UCSC Ensembl
Outerchr1:203918608..203942844hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3824237
hg1924237
hg1824237
hg1724237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620145
SamplesNA15510
Known GenesCD55
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)nsv508688
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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