A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv230



Internal ID15383711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:28142428..28157500hg38UCSC Ensembl
Outerchr3:28183919..28198991hg19UCSC Ensembl
Outerchr3:28158923..28173995hg18UCSC Ensembl
Outerchr3:28158923..28173995hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3815073
hg1915073
hg1815073
hg1715073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv230
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)nsv230
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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