A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15765885



Internal ID22100356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094219..50094219hg38UCSC Ensembl
chr20:48710756..48710756hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4444089
Supporting Variants
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15765885
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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