A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509155



Internal ID15825181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157309770..157318112hg38UCSC Ensembl
Outerchr6:157730802..157739144hg19UCSC Ensembl
Outerchr6:157650790..157659132hg18UCSC Ensembl
Outerchr6:157701211..157709553hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3831582
hg1931582
hg1831582
hg1731582
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623486
SamplesNA18994
Known GenesTMEM242
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)nsv509155
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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