A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441850



Internal ID22108032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125749595..125749595hg38UCSC Ensembl
chr6:126070741..126070741hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767365
Samples
Known GenesHEY2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441850
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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