A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056638



Internal ID105585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55761191..55761226hg38UCSC Ensembl
chr12:56154975..56155010hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540111
Supporting Variants
Samples
Known GenesSARNP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003434


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