A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072546



Internal ID18973547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50153062..50157563hg38UCSC Ensembl
chr20:48769599..48774100hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765382
SamplesKWP1
Known GenesTMEM189, TMEM189-UBE2V1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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