A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509177



Internal ID15476675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170083221..170274264hg38UCSC Ensembl
Outerchr6:170398445..170583352hg19UCSC Ensembl
Outerchr6:170240370..170425277hg18UCSC Ensembl
Outerchr6:170316077..170500984hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384622
hg194622
hg184622
hg174622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620873, nssv619469, nssv623497, nssv619470, nssv623498, nssv619468, nssv620874
SamplesNA15510, NA18994, NA10860
Known GenesFLJ38122, LOC154449
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)nsv509177
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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