A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623824



Internal ID15475711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32420379..32489248hg38UCSC Ensembl
Outerchr20:31008182..31077051hg19UCSC Ensembl
Outerchr20:30471843..30540712hg18UCSC Ensembl
Outerchr20:30471843..30540712hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383706
hg193706
hg183706
hg173706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509765
Supporting Variants
SamplesNA18994
Known GenesASXL1, C20orf112
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)nssv623824
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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