A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv252



Internal ID15383735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:18267..49754hg38UCSC Ensembl
Outerchr4:18267..49648hg19UCSC Ensembl
Outerchr4:8267..39648hg18UCSC Ensembl
Outerchr4:8267..39648hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg388616
hg198616
hg188616
hg178616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv252
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)nsv252
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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