A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508497



Internal ID15824524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:10823111..10892745hg38UCSC Ensembl
Outerchr8:10680621..10750255hg19UCSC Ensembl
Outerchr8:10718031..10787665hg18UCSC Ensembl
Outerchr8:10718031..10787665hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3869635
hg1969635
hg1869635
hg1769635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622591
SamplesNA18994
Known GenesMIR1322, PINX1
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)nsv508497
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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