A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508503



Internal ID15824530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39368506..39521967hg38UCSC Ensembl
Outerchr8:39226025..39379486hg19UCSC Ensembl
Outerchr8:39345182..39498643hg18UCSC Ensembl
Outerchr8:39345182..39498643hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38153462
hg19153462
hg18153462
hg17153462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617360
SamplesCHM
Known GenesADAM3A, ADAM5
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)nsv508503
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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