A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508904



Internal ID15476402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10455994..10537955hg38UCSC Ensembl
Outerchr3:10497678..10579639hg19UCSC Ensembl
Outerchr3:10472678..10554639hg18UCSC Ensembl
Outerchr3:10472678..10554639hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg383404
hg193404
hg183404
hg173404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619314
SamplesNA10860
Known GenesATP2B2
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)nsv508904
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer