A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508601



Internal ID15480277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96678133..96774564hg38UCSC Ensembl
Outerchr10:98437890..98534321hg19UCSC Ensembl
Outerchr10:98427880..98524311hg18UCSC Ensembl
Outerchr10:98427880..98524311hg17UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3896432
hg1996432
hg1896432
hg1796432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618957
SamplesNA10860
Known GenesPIK3AP1
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)nsv508601
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