A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438574



Internal ID22104754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76062485..76062485hg38UCSC Ensembl
chr17:74058566..74058566hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765397
Samples
Known GenesSRP68
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438574
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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