A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv125



Internal ID15383594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:92201527..92205741hg38UCSC Ensembl
Outerchr15:92744757..92748971hg19UCSC Ensembl
Outerchr15:90545761..90549975hg18UCSC Ensembl
Outerchr15:90545761..90549975hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3835270
hg1935270
hg1835270
hg1735270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv125
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)nsv125
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