A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953042



Internal ID17301916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21416812..21554811hg38UCSC Ensembl
Outerchr22:21771101..21909100hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38138000
hg19138000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000764
SamplesBILGI_BIOE
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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