A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974171



Internal ID22749106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41762147..41762147hg38UCSC Ensembl
chr17:39918399..39918399hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384121
Samples
Known GenesJUP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974171
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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