A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072635



Internal ID19316137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36730948..36731291hg38UCSC Ensembl
chr22:37126993..37127336hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771274
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072635
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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