A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv92



Internal ID15383854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34513908..34550641hg38UCSC Ensembl
Outerchr14:34983114..35019847hg19UCSC Ensembl
Outerchr14:34052865..34089598hg18UCSC Ensembl
Outerchr14:34052865..34089598hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3836734
hg1936734
hg1836734
hg1736734
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv92
SamplesNA15510
Known GenesEAPP
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)nsv92
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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