A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv152



Internal ID15383336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85382581..85415085hg38UCSC Ensembl
Outerchr16:85416187..85448691hg19UCSC Ensembl
Outerchr16:83973688..84006192hg18UCSC Ensembl
Outerchr16:83973688..84006192hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3832505
hg1932505
hg1832505
hg1732505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv152
Supporting Variants
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)nssv152
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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