A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508611



Internal ID15824638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122562819..122630985hg38UCSC Ensembl
Outerchr10:124322335..124390501hg19UCSC Ensembl
Outerchr10:124312325..124380491hg18UCSC Ensembl
Outerchr10:124312325..124380491hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3868167
hg1968167
hg1868167
hg1768167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622769, nssv617384, nssv618970
SamplesCHM, NA18994, NA10860
Known GenesDMBT1
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)nsv508611
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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