A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437748



Internal ID22103928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6094838..6094838hg38UCSC Ensembl
chr17:5998158..5998158hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766305
Samples
Known GenesWSCD1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437748
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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