A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510649



Internal ID15478145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94421103..94544514hg38UCSC Ensembl
Outerchr14:94887440..95010851hg19UCSC Ensembl
Outerchr14:93957193..94080604hg18UCSC Ensembl
Outerchr14:93957193..94080604hg17UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38123412
hg19123412
hg18123412
hg17123412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622690
SamplesNA18994
Known GenesSERPINA11, SERPINA12, SERPINA9
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)nsv510649
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