A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445143



Internal ID22111323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002604..52002604hg38UCSC Ensembl
chr13:52576740..52576740hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768248
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445143
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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