A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv148



Internal ID15383619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55816263..55821690hg38UCSC Ensembl
Outerchr16:55850175..55855602hg19UCSC Ensembl
Outerchr16:54407676..54413103hg18UCSC Ensembl
Outerchr16:54407676..54413103hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg385428
hg195428
hg185428
hg175428
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv148
SamplesNA15510
Known GenesCES1
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)nsv148
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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