A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072208



Internal ID18978929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29237010..29239411hg38UCSC Ensembl
chr22:29632999..29635400hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764934
SamplesKWP1
Known GenesEMID1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072208
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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