A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv149



Internal ID15383620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75215407..75253284hg38UCSC Ensembl
Outerchr16:75249305..75287182hg19UCSC Ensembl
Outerchr16:73806806..73844683hg18UCSC Ensembl
Outerchr16:73806806..73844683hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3837878
hg1937878
hg1837878
hg1737878
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv149
SamplesNA15510
Known GenesBCAR1, CTRB1
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)nsv149
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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