A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623675



Internal ID15475562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:44997984..45057142hg38UCSC Ensembl
Outerchr15:45290182..45349340hg19UCSC Ensembl
Outerchr15:43077474..43136632hg18UCSC Ensembl
Outerchr15:43077474..43136632hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg383175
hg193175
hg183175
hg173175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509570
Supporting Variants
SamplesNA18994
Known GenesSORD
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)nssv623675
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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