A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv123



Internal ID15383592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:92196523..92200900hg38UCSC Ensembl
Outerchr15:92739753..92744130hg19UCSC Ensembl
Outerchr15:90540757..90545134hg18UCSC Ensembl
Outerchr15:90540757..90545134hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3834630
hg1934630
hg1834630
hg1734630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv123
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)nsv123
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