A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510602



Internal ID15826626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58328666..58377159hg38UCSC Ensembl
Outerchr12:58722449..58770942hg19UCSC Ensembl
Outerchr12:57008716..57057209hg18UCSC Ensembl
Outerchr12:57008716..57057209hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3848494
hg1948494
hg1848494
hg1748494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618895, nssv622660, nssv620049
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)nsv510602
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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