A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv38



Internal ID15383506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125581221..125627009hg38UCSC Ensembl
Outerchr8:126593465..126639253hg19UCSC Ensembl
Outerchr8:126662647..126708435hg18UCSC Ensembl
Outerchr8:126662647..126708435hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3845789
hg1945789
hg1845789
hg1745789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv38
Supporting Variants
SamplesNA15510
Known Genes
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)nssv38
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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