A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509160



Internal ID15825186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160597751..160654683hg38UCSC Ensembl
Outerchr6:161018783..161075715hg19UCSC Ensembl
Outerchr6:160938773..160995705hg18UCSC Ensembl
Outerchr6:160989194..161046126hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3882167
hg1982167
hg1882167
hg1782167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620865, nssv619460, nssv623489
SamplesNA15510, NA18994, NA10860
Known GenesLPA
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)nsv509160
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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