A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508903



Internal ID15476401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10275353..10401894hg38UCSC Ensembl
Outerchr3:10317037..10443578hg19UCSC Ensembl
Outerchr3:10292037..10418578hg18UCSC Ensembl
Outerchr3:10292037..10418578hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg385859
hg195859
hg185859
hg175859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619313
SamplesNA10860
Known GenesATP2B2, GHRL, GHRLOS, LINC00852, MIR885, SEC13, TATDN2
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)nsv508903
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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