A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv117



Internal ID15383297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:84230858..84400063hg38UCSC Ensembl
Outerchr15:84899610..84954761hg19UCSC Ensembl
Outerchr15:82690614..82745765hg18UCSC Ensembl
Outerchr15:82690614..82745765hg17UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38169206
hg1955152
hg1855152
hg1755152
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv117
Supporting Variants
SamplesNA15510
Known GenesGOLGA6L4
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)nssv117
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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