A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509583



Internal ID15477081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:98969886..99110574hg38UCSC Ensembl
Outerchr15:99513115..99650779hg19UCSC Ensembl
Outerchr15:97330638..97468302hg18UCSC Ensembl
Outerchr15:97330638..97468302hg17UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg387415
hg197415
hg187415
hg177415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623680
SamplesNA18994
Known GenesPGPEP1L, SYNM
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)nsv509583
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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