A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508954



Internal ID15824980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129985778..130083593hg38UCSC Ensembl
Outerchr3:129704621..129802436hg19UCSC Ensembl
Outerchr3:131187311..131285126hg18UCSC Ensembl
Outerchr3:131187319..131285134hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384839
hg194839
hg184839
hg174839
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623384
SamplesNA18994
Known GenesALG1L2
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)nsv508954
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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