A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510918



Internal ID15826940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:60596683..61119912hg38UCSC Ensembl
Outerchr6:57564430..58154470hg19UCSC Ensembl
Outerchr6:57672389..58262429hg18UCSC Ensembl
Outerchr6:57672389..58262429hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38523230
hg19590041
hg18590041
hg17590041
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622375, nssv624307, nssv621591
SamplesNA15510, NA18994, NA10860
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)nsv510918
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


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