A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508242



Internal ID15479918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129985778..130113405hg38UCSC Ensembl
Outerchr3:129704621..129832248hg19UCSC Ensembl
Outerchr3:131187311..131314938hg18UCSC Ensembl
Outerchr3:131187319..131314946hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38127628
hg19127628
hg18127628
hg17127628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618719
SamplesNA10860
Known GenesALG1L2, FAM86HP
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)nsv508242
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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