A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072614



Internal ID18973838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17801096..17801451hg38UCSC Ensembl
chr22:18283862..18284217hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771350
SamplesKWP1
Known GenesMICAL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072614
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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