A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509503



Internal ID15825529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38951413..38969993hg38UCSC Ensembl
Outerchr13:39525550..39544130hg19UCSC Ensembl
Outerchr13:38423550..38442130hg18UCSC Ensembl
Outerchr13:38423550..38442130hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383117
hg193117
hg183117
hg173117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623647
SamplesNA18994
Known GenesSTOML3
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)nsv509503
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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