A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510943



Internal ID15478437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57005705..57025694hg38UCSC Ensembl
Outerchr18:54672936..54692925hg19UCSC Ensembl
Outerchr18:52823934..52843923hg18UCSC Ensembl
Outerchr18:52823934..52843923hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3819990
hg1919990
hg1819990
hg1719990
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618678
SamplesCHM
Known GenesWDR7
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)nsv510943
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