A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv53



Internal ID15383811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69516587..69533149hg38UCSC Ensembl
Outerchr10:71276343..71292905hg19UCSC Ensembl
Outerchr10:70946349..70962911hg18UCSC Ensembl
Outerchr10:70946349..70962911hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3816563
hg1916563
hg1816563
hg1716563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv53
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)nsv53
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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