A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053998



Internal ID103836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21648261..21648312hg38UCSC Ensembl
chr12:21801195..21801246hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428825
Supporting Variants
Samples
Known GenesLDHB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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