A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv93



Internal ID15383855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34554984..34584277hg38UCSC Ensembl
Outerchr14:35024190..35053483hg19UCSC Ensembl
Outerchr14:34093941..34123234hg18UCSC Ensembl
Outerchr14:34093941..34123234hg17UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3829294
hg1929294
hg1829294
hg1729294
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv93
SamplesNA15510
Known GenesSNX6
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)nsv93
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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