A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv23



Internal ID15383710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7768047..7785721hg38UCSC Ensembl
Outerchr8:7625569..7643243hg19UCSC Ensembl
Outerchr8:7662979..7680653hg18UCSC Ensembl
Outerchr8:7662979..7680653hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820433
hg1920433
hg1820433
hg1720433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23
SamplesNA15510
Known GenesFAM90A10P, PRR23D1, PRR23D2
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)nsv23
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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