A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4n1



Internal ID22766191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:35144581..35498333hg38UCSC Ensembl
chr16:34378952..34732704hg19UCSC Ensembl
chr16:34236453..34590205hg18UCSC Ensembl
chr16:34236453..34590205hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38353753
hg19353753
hg18353753
hg17353753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv144, nsv143
SamplesNA15510
Known GenesLOC146481, LOC283914, UBE2MP1
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)dgv4n1
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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