A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508527



Internal ID15824554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128446324..128472555hg38UCSC Ensembl
Outerchr8:129458570..129484801hg19UCSC Ensembl
Outerchr8:129527752..129553983hg18UCSC Ensembl
Outerchr8:129527752..129553983hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3826232
hg1926232
hg1826232
hg1726232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618843, nssv620015, nssv617365, nssv622603
SamplesCHM, NA15510, NA18994, 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)nsv508527
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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