A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508970



Internal ID15476468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183126164..183213219hg38UCSC Ensembl
Outerchr3:182843952..182931007hg19UCSC Ensembl
Outerchr3:184326646..184413701hg18UCSC Ensembl
Outerchr3:184326654..184413709hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg383078
hg193078
hg183078
hg173078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620776, nssv619345
SamplesNA15510, NA10860
Known GenesLAMP3, MCF2L2
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)nsv508970
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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