A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv168



Internal ID15383353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36104606..36121286hg38UCSC Ensembl
Outerchr2:36331749..36348429hg19UCSC Ensembl
Outerchr2:36185253..36201933hg18UCSC Ensembl
Outerchr2:36243400..36260080hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3816681
hg1916681
hg1816681
hg1716681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv168
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)nssv168
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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