A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv249



Internal ID15383731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193405870..193444915hg38UCSC Ensembl
Outerchr3:193123659..193162704hg19UCSC Ensembl
Outerchr3:194606353..194645398hg18UCSC Ensembl
Outerchr3:194606361..194645406hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3839046
hg1939046
hg1839046
hg1739046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv249
SamplesNA15510
Known GenesATP13A4
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)nsv249
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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