A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510604



Internal ID15826628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:83220714..83285738hg38UCSC Ensembl
Outerchr12:83614493..83679517hg19UCSC Ensembl
Outerchr12:82138624..82203648hg18UCSC Ensembl
Outerchr12:82116961..82181985hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3865025
hg1965025
hg1865025
hg1765025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620050
SamplesNA15510
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)nsv510604
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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