A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072189



Internal ID18977931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45117899..45119083hg38UCSC Ensembl
chr21:46537814..46538998hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763011
SamplesKWP1
Known GenesADARB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072189
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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