A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv50



Internal ID15383808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6351101..6380854hg38UCSC Ensembl
Outerchr10:6393063..6422816hg19UCSC Ensembl
Outerchr10:6433069..6462822hg18UCSC Ensembl
Outerchr10:6433069..6462822hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3829754
hg1929754
hg1829754
hg1729754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv50
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)nsv50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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