A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510644



Internal ID15826668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75045880..75060238hg38UCSC Ensembl
Outerchr14:75512583..75526941hg19UCSC Ensembl
Outerchr14:74582336..74596694hg18UCSC Ensembl
Outerchr14:74582336..74596694hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3814359
hg1914359
hg1814359
hg1714359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617416
SamplesCHM
Known GenesACYP1, MLH3
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)nsv510644
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