A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444714



Internal ID22110894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46016093..46016143hg38UCSC Ensembl
chr6:45983830..45983880hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756706
Samples
Known GenesCLIC5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444714
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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