A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508600



Internal ID15480276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:92355268..92472160hg38UCSC Ensembl
Outerchr10:94115025..94231917hg19UCSC Ensembl
Outerchr10:94105005..94221897hg18UCSC Ensembl
Outerchr10:94105005..94221897hg17UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38116893
hg19116893
hg18116893
hg17116893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620125
SamplesNA15510
Known GenesIDE, MARK2P9
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)nsv508600
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