A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742649



Internal ID20518633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80200287..80200369hg38UCSC Ensembl
chr17:78174086..78174168hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266345
Samples
Known GenesCARD14
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742649
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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