A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508438



Internal ID15480114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165289866..165347160hg38UCSC Ensembl
Outerchr6:165703355..165760649hg19UCSC Ensembl
Outerchr6:165623345..165680639hg18UCSC Ensembl
Outerchr6:165673766..165731060hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3857295
hg1957295
hg1857295
hg1757295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619985, nssv622562
SamplesNA15510, NA18994
Known GenesC6orf118, PDE10A
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)nsv508438
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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