A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv146



Internal ID15383329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3175576..3196089hg38UCSC Ensembl
Outerchr2:3179347..3199860hg19UCSC Ensembl
Outerchr2:3158354..3178867hg18UCSC Ensembl
Outerchr2:4717630..4738143hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg389533
hg199533
hg189533
hg179533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv146
Supporting Variants
SamplesNA15510
Known GenesTSSC1
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)nssv146
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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