A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443042



Internal ID22109225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:603814..603814hg38UCSC Ensembl
chr7:643451..643451hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759469
Samples
Known GenesPRKAR1B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443042
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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