A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv41



Internal ID15036824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143202119..143230416hg38UCSC Ensembl
Outerchr8:144283580..144312586hg19UCSC Ensembl
Outerchr8:144354955..144383961hg18UCSC Ensembl
Outerchr8:144354955..144383961hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389386
hg199386
hg189386
hg179386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv41
Supporting Variants
SamplesNA15510
Known GenesGPIHBP1
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)nssv41
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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