A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv33



Internal ID15383501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85774384..85851337hg38UCSC Ensembl
Outerchr8:86801686..86863566hg19UCSC Ensembl
Outerchr8:86871247..86932655hg18UCSC Ensembl
Outerchr8:86871247..86932655hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3876954
hg1961881
hg1861409
hg1761409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv33
Supporting Variants
SamplesNA15510
Known GenesREXO1L2P
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv33
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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