A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv136



Internal ID15036929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14897521..14971935hg38UCSC Ensembl
Outerchr16:14991378..15065792hg19UCSC Ensembl
Outerchr16:14898879..14973293hg18UCSC Ensembl
Outerchr16:14898879..14973293hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3874415
hg1974415
hg1874415
hg1774415
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv136
SamplesNA15510
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NPIPA1
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)nsv136
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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