A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508676



Internal ID15480352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57651353..57704755hg38UCSC Ensembl
Outerchr12:58045136..58098538hg19UCSC Ensembl
Outerchr12:56331403..56384805hg18UCSC Ensembl
Outerchr12:56331403..56384805hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3853403
hg1953403
hg1853403
hg1753403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622658
SamplesNA18994
Known GenesOS9
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)nsv508676
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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