A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv191



Internal ID15383667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33472546..33488305hg38UCSC Ensembl
Outerchr21:34844853..34860612hg19UCSC Ensembl
Outerchr21:33766723..33782482hg18UCSC Ensembl
Outerchr21:33766723..33782482hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389308
hg199308
hg189308
hg179308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv191
SamplesNA15510
Known GenesDNAJC28, TMEM50B
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)nsv191
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