A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv147



Internal ID15036941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55742368..55812051hg38UCSC Ensembl
Outerchr16:55776280..55845963hg19UCSC Ensembl
Outerchr16:54333781..54403464hg18UCSC Ensembl
Outerchr16:54333781..54403464hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3869684
hg1969684
hg1869684
hg1769684
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv147
SamplesNA15510
Known GenesCES1, CES1P1, CES1P2
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)nsv147
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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