A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618606



Internal ID15816412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174304169..174322849hg38UCSC Ensembl
Outerchr4:175225320..175244000hg19UCSC Ensembl
Outerchr4:175461895..175480575hg18UCSC Ensembl
Outerchr4:175600050..175618730hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3818681
hg1918681
hg1818681
hg1718681
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510928
Supporting Variants
SamplesCHM
Known GenesCEP44
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)nssv618606
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