A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508602



Internal ID15824629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98907668..98963134hg38UCSC Ensembl
Outerchr10:100667425..100722891hg19UCSC Ensembl
Outerchr10:100657415..100712881hg18UCSC Ensembl
Outerchr10:100657415..100712881hg17UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3855467
hg1955467
hg1855467
hg1755467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620135
SamplesNA15510
Known GenesHPSE2
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)nsv508602
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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