A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509112



Internal ID15825138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181006674..181066955hg38UCSC Ensembl
Outerchr5:180433674..180493955hg19UCSC Ensembl
Outerchr5:180366280..180426561hg18UCSC Ensembl
Outerchr5:180366280..180426561hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387972
hg197972
hg187972
hg177972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619440, nssv623465
SamplesNA18994, NA10860
Known GenesBTNL3, BTNL9, MIR8089
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)nsv509112
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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