A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv198



Internal ID15036997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38954302..39000579hg38UCSC Ensembl
Outerchr22:39350307..39396584hg19UCSC Ensembl
Outerchr22:37680253..37726530hg18UCSC Ensembl
Outerchr22:37674807..37721084hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3846278
hg1946278
hg1846278
hg1746278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv198
SamplesNA15510
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)nsv198
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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