A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509131



Internal ID15825157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43908772..44071222hg38UCSC Ensembl
Outerchr6:43876509..44038959hg19UCSC Ensembl
Outerchr6:43984487..44146937hg18UCSC Ensembl
Outerchr6:43984487..44146937hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
hg174001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623476, nssv619449, nssv619450
SamplesNA18994, NA10860
Known GenesC6orf223, LOC100132354
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)nsv509131
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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