A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv240



Internal ID15383722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:107979335..108004663hg38UCSC Ensembl
Outerchr3:107698182..107723510hg19UCSC Ensembl
Outerchr3:109180872..109206200hg18UCSC Ensembl
Outerchr3:109180872..109206200hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3825329
hg1925329
hg1825329
hg1725329
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv240
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)nsv240
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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