A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618644



Internal ID15816450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7258634..7276554hg38UCSC Ensembl
Outerchr5:7258747..7276667hg19UCSC Ensembl
Outerchr5:7311747..7329667hg18UCSC Ensembl
Outerchr5:7311747..7329667hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3817921
hg1917921
hg1817921
hg1717921
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510896
Supporting Variants
SamplesCHM
Known GenesMIR4454
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)nssv618644
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