A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509780



Internal ID15825806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61301397..61338701hg38UCSC Ensembl
Outerchr20:59876453..59913757hg19UCSC Ensembl
Outerchr20:59309848..59347152hg18UCSC Ensembl
Outerchr20:59309848..59347152hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383714
hg193714
hg183714
hg173714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619848
SamplesNA10860
Known GenesCDH4
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)nsv509780
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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