A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976072



Internal ID51453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059138..137059138hg38UCSC Ensembl
chr5:136394827..136394827hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537522
Supporting Variants
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976072
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.200661


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