A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955172



Internal ID17304045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43819821..43863120hg38UCSC Ensembl
Outerchr22:44215701..44259000hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3843300
hg1943300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000818
SamplesBILGI_BIOE
Known GenesSULT4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955172
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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