A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv122



Internal ID15383591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:92187460..92188366hg38UCSC Ensembl
Outerchr15:92730690..92731596hg19UCSC Ensembl
Outerchr15:90531694..90532600hg18UCSC Ensembl
Outerchr15:90531694..90532600hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3835576
hg1935576
hg1835576
hg1735576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv122
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)nsv122
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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