A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv115



Internal ID15383295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75252732..75269721hg38UCSC Ensembl
Outerchr15:75545073..75562062hg19UCSC Ensembl
Outerchr15:73332126..73349115hg18UCSC Ensembl
Outerchr15:73332126..73349115hg17UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3821172
hg1921172
hg1821172
hg1721172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv115
Supporting Variants
SamplesNA15510
Known GenesGOLGA6C
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)nssv115
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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