A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509771



Internal ID15477269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46614863..46658964hg38UCSC Ensembl
Outerchr20:45243502..45287603hg19UCSC Ensembl
Outerchr20:44676909..44721010hg18UCSC Ensembl
Outerchr20:44676909..44721010hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383168
hg193168
hg183168
hg173168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621125
SamplesNA15510
Known GenesSLC13A3
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)nsv509771
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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