A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509582



Internal ID15477080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90578822..90663170hg38UCSC Ensembl
Outerchr15:91122054..91206401hg19UCSC Ensembl
Outerchr15:88923058..89007405hg18UCSC Ensembl
Outerchr15:88923058..89007405hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
hg173999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621016
SamplesNA15510
Known GenesCRTC3
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)nsv509582
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer