A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621196



Internal ID15473860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38019295..38091072hg38UCSC Ensembl
Outerchr3:38060786..38132563hg19UCSC Ensembl
Outerchr3:38035790..38107567hg18UCSC Ensembl
Outerchr3:38035790..38107567hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383327
hg193327
hg183327
hg173327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508911
Supporting Variants
SamplesNA15510
Known GenesDLEC1, PLCD1
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)nssv621196
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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