A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511015



Internal ID15827037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31808515..31918121hg38UCSC Ensembl
Outerchr12:31961449..32071055hg19UCSC Ensembl
Outerchr12:31852716..31962322hg18UCSC Ensembl
Outerchr12:31852716..31962322hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38109607
hg19109607
hg18109607
hg17109607
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618614, nssv624335, nssv622395
SamplesCHM, 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)nsv511015
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex3
Frequencyn/a


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