A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052833



Internal ID103071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9702865..9891751hg38UCSC Ensembl
chr12:9855461..10044350hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38188887
hg19188890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143743
Supporting Variants
Samples
Known GenesCD69, CLEC2B, CLECL1, KLRF1, KLRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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