A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509518



Internal ID15825544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112871364..112919528hg38UCSC Ensembl
Outerchr13:113525678..113573842hg19UCSC Ensembl
Outerchr13:112573679..112621843hg18UCSC Ensembl
Outerchr13:112573679..112621843hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383506
hg193506
hg183506
hg173506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619641
SamplesNA10860
Known GenesATP11A
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)nsv509518
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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