A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510777



Internal ID15478273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:366849..416704hg38UCSC Ensembl
Outerchr20:347493..397348hg19UCSC Ensembl
Outerchr20:295493..345348hg18UCSC Ensembl
Outerchr20:295493..345348hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3849856
hg1949856
hg1849856
hg1749856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617440
SamplesCHM
Known GenesRBCK1, TRIB3
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)nsv510777
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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