A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619011



Internal ID15472129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46884565..46990248hg38UCSC Ensembl
Outerchr20:45513204..45618887hg19UCSC Ensembl
Outerchr20:44946611..45052294hg18UCSC Ensembl
Outerchr20:44946611..45052294hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38105684
hg19105684
hg18105684
hg17105684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510788
Supporting Variants
SamplesNA10860
Known GenesEYA2
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)nssv619011
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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