A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509520



Internal ID15825546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113219205..113257807hg38UCSC Ensembl
Outerchr13:113873519..113912121hg19UCSC Ensembl
Outerchr13:112921520..112960122hg18UCSC Ensembl
Outerchr13:112921520..112960122hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383897
hg193897
hg183897
hg173897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623654
SamplesNA18994
Known GenesCUL4A
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)nsv509520
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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