A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv80



Internal ID15383841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17757234..17839371hg38UCSC Ensembl
Outerchr12:17910168..17992305hg19UCSC Ensembl
Outerchr12:17801435..17883572hg18UCSC Ensembl
Outerchr12:17801435..17883572hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3882138
hg1982138
hg1882138
hg1782138
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv80
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)nsv80
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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