A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072597



Internal ID18978987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33402693..33403794hg38UCSC Ensembl
chr21:34774999..34776100hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772147
SamplesKWP1
Known GenesIFNGR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072597
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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