A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511021



Internal ID15827043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80438403..80476207hg38UCSC Ensembl
Outerchr12:80832183..80869986hg19UCSC Ensembl
Outerchr12:79356314..79394117hg18UCSC Ensembl
Outerchr12:79334651..79372454hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3837805
hg1937804
hg1837804
hg1737804
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618615, nssv621618
SamplesCHM, NA15510
Known GenesPTPRQ
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)nsv511021
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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