A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv261



Internal ID15036771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150239045..150268645hg38UCSC Ensembl
Outerchr4:151160197..151189797hg19UCSC Ensembl
Outerchr4:151379647..151409247hg18UCSC Ensembl
Outerchr4:151517802..151547402hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg388292
hg198292
hg188292
hg178292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv261
Supporting Variants
SamplesNA15510
Known GenesDCLK2, LRBA
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)nssv261
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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