A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438442



Internal ID22104622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41730104..41730104hg38UCSC Ensembl
chr17:39886356..39886356hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768257
Samples
Known GenesHAP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438442
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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