A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623620



Internal ID15822193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12645094..12681838hg38UCSC Ensembl
Outerchr12:12798028..12834772hg19UCSC Ensembl
Outerchr12:12689295..12726039hg18UCSC Ensembl
Outerchr12:12689295..12726039hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg383974
hg193974
hg183974
hg173974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509456
Supporting Variants
SamplesNA18994
Known GenesCREBL2, GPR19
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)nssv623620
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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