A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508609



Internal ID15480285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112338315..112385553hg38UCSC Ensembl
Outerchr10:114098073..114145311hg19UCSC Ensembl
Outerchr10:114088063..114135301hg18UCSC Ensembl
Outerchr10:114088063..114135301hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3847239
hg1947239
hg1847239
hg1747239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617383, nssv618966
SamplesCHM, NA10860
Known GenesACSL5, GUCY2GP
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)nsv508609
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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