A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv94



Internal ID15383856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69535648..69563698hg38UCSC Ensembl
Outerchr14:70002365..70030415hg19UCSC Ensembl
Outerchr14:69072118..69100168hg18UCSC Ensembl
Outerchr14:69072118..69100168hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3828051
hg1928051
hg1828051
hg1728051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv94
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)nsv94
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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