A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv42



Internal ID15036825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143610600..143635500hg38UCSC Ensembl
Outerchr8:144692770..144717670hg19UCSC Ensembl
Outerchr8:144763913..144788813hg18UCSC Ensembl
Outerchr8:144763913..144788813hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3824901
hg1924901
hg1824901
hg1724901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv42
Supporting Variants
SamplesNA15510
Known GenesTSTA3
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)nssv42
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer