A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073136



Internal ID18974664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43864518..43865619hg38UCSC Ensembl
chr21:45284399..45285500hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767845
SamplesKWP1
Known GenesAGPAT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073136
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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