A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619818



Internal ID15471713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161684642..161684642hg38UCSC Ensembl
Outerchr1:161654432..161654432hg19UCSC Ensembl
Outerchr1:159921056..159921056hg18UCSC Ensembl
Outerchr1:158386089..158386089hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3884047
hg1984047
hg1884047
hg1784047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509546
Supporting Variants
SamplesNA10860
Known GenesRPL31P11
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)nssv619818
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