A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072124



Internal ID19325691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57391343..57392344hg38UCSC Ensembl
chr20:55966399..55967400hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763122
SamplesKWP1
Known GenesMIR5095, RBM38
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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