A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419593



Internal ID22477463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60825188..61041210hg38UCSC Ensembl
chr5:60121015..60337037hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38216023
hg19216023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901952
Supporting Variants
Samples
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419593
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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