A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619358



Internal ID15471253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:692615..756994hg38UCSC Ensembl
Outerchr4:686404..750782hg19UCSC Ensembl
Outerchr4:676404..740782hg18UCSC Ensembl
Outerchr4:676404..740612hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383032
hg193032
hg183032
hg173032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508986
Supporting Variants
SamplesNA10860
Known GenesPCGF3
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)nssv619358
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