A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621194



Internal ID15473858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32927304..32956808hg38UCSC Ensembl
Outerchr3:32968796..32998300hg19UCSC Ensembl
Outerchr3:32943800..32973304hg18UCSC Ensembl
Outerchr3:32943800..32973304hg17UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg383992
hg193992
hg183992
hg173992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508909
Supporting Variants
SamplesNA15510
Known GenesCCR4
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)nssv621194
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