A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510928



Internal ID15826950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174302319..174322849hg38UCSC Ensembl
Outerchr4:175223470..175244000hg19UCSC Ensembl
Outerchr4:175460045..175480575hg18UCSC Ensembl
Outerchr4:175598200..175618730hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3820531
hg1920531
hg1820531
hg1720531
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618606, nssv624294
SamplesCHM, NA18994
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)nsv510928
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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