A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974508



Internal ID50376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137116393..137126587hg38UCSC Ensembl
chr5:136452082..136462276hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810195
hg1910195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469084
Supporting Variants
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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