A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619468



Internal ID15471363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170083221..170124664hg38UCSC Ensembl
Outerchr6:170398445..170439888hg19UCSC Ensembl
Outerchr6:170240370..170281813hg18UCSC Ensembl
Outerchr6:170316077..170357520hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384622
hg194622
hg184622
hg174622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509177
Supporting Variants
SamplesNA10860
Known Genes
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)nssv619468
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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