A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510782



Internal ID15826807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22825935..22927102hg38UCSC Ensembl
Outerchr20:22806573..22907739hg19UCSC Ensembl
Outerchr20:22754573..22855739hg18UCSC Ensembl
Outerchr20:22754573..22855739hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38101168
hg19101167
hg18101167
hg17101167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622797
SamplesNA18994
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)nsv510782
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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