A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv62



Internal ID15383821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1908931..1961249hg38UCSC Ensembl
Outerchr11:1930161..1982479hg19UCSC Ensembl
Outerchr11:1886737..1939055hg18UCSC Ensembl
Outerchr11:1886737..1939055hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3852319
hg1952319
hg1852319
hg1752319
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv62
SamplesNA15510
Known GenesMRPL23, TNNT3
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)nsv62
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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