A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510786



Internal ID15826811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41444312..41513760hg38UCSC Ensembl
Outerchr20:40072952..40142399hg19UCSC Ensembl
Outerchr20:39506366..39575813hg18UCSC Ensembl
Outerchr20:39506366..39575813hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3869449
hg1969448
hg1869448
hg1769448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619009
SamplesNA10860
Known GenesCHD6
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)nsv510786
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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