A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439625



Internal ID22105802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127634170..127634170hg38UCSC Ensembl
chr12:128118715..128118715hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763640
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439625
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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