A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv63



Internal ID15383534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1937872..1940827hg38UCSC Ensembl
Outerchr11:1959102..1962057hg19UCSC Ensembl
Outerchr11:1915678..1918633hg18UCSC Ensembl
Outerchr11:1915678..1918633hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3823152
hg1923152
hg1823152
hg1723152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv63
Supporting Variants
SamplesNA15510
Known GenesTNNT3
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)nssv63
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