A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437172



Internal ID22103350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70481421..70481490hg38UCSC Ensembl
chr4:71347138..71347207hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756643
Samples
Known GenesMUC7
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437172
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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