A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv45



Internal ID15383802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123950306..123981279hg38UCSC Ensembl
Outerchr9:126712585..126743558hg19UCSC Ensembl
Outerchr9:125752406..125783379hg18UCSC Ensembl
Outerchr9:123792139..123823112hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3830974
hg1930974
hg1830974
hg1730974
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv45
SamplesNA15510
Known Genes
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)nsv45
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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