A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv226



Internal ID15037029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151600583..151624082hg38UCSC Ensembl
Outerchr2:152457097..152480596hg19UCSC Ensembl
Outerchr2:152165343..152188842hg18UCSC Ensembl
Outerchr2:152282605..152306104hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3812710
hg1912710
hg1812710
hg1712710
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv226
SamplesNA15510
Known GenesNEB
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)nsv226
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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