A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618631



Internal ID15469751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109918699..109983644hg38UCSC Ensembl
Outerchr2:110676276..110741221hg19UCSC Ensembl
Outerchr2:110033565..110098510hg18UCSC Ensembl
Outerchr2:110033651..110098596hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3864946
hg1964946
hg1864946
hg1764946
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510884
Supporting Variants
SamplesCHM
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LOC100288570, LOC100507334, LOC440895
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)nssv618631
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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