A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510754



Internal ID15478250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12189141..12205545hg38UCSC Ensembl
Outerchr19:12299956..12316360hg19UCSC Ensembl
Outerchr19:12160956..12177360hg18UCSC Ensembl
Outerchr19:12160956..12177360hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3816405
hg1916405
hg1816405
hg1716405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620115
SamplesNA15510
Known GenesLOC100289333, ZNF136
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)nsv510754
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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