A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623821



Internal ID15822394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4395525..4448858hg38UCSC Ensembl
Outerchr20:4376172..4429505hg19UCSC Ensembl
Outerchr20:4324172..4377505hg18UCSC Ensembl
Outerchr20:4324172..4377505hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383388
hg193388
hg183388
hg173388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509760
Supporting Variants
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)nssv623821
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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