A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508567



Internal ID15824594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6365720..6385675hg38UCSC Ensembl
Outerchr10:6407682..6427637hg19UCSC Ensembl
Outerchr10:6447688..6467643hg18UCSC Ensembl
Outerchr10:6447688..6467643hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3819956
hg1919956
hg1819956
hg1719956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620195, nssv618976, nssv617376
SamplesCHM, NA15510, NA10860
Known Genes
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)nsv508567
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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