A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508610



Internal ID15480286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120391828..120472088hg38UCSC Ensembl
Outerchr10:122151340..122231600hg19UCSC Ensembl
Outerchr10:122141330..122221590hg18UCSC Ensembl
Outerchr10:122141330..122221590hg17UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg3880261
hg1980261
hg1880261
hg1780261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618968, nssv622765, nssv620152
SamplesNA15510, NA18994, NA10860
Known GenesPPAPDC1A
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)nsv508610
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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