A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684906



Internal ID108572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120454128..120460128hg38UCSC Ensembl
chr12:120891931..120897931hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143905
Supporting Variants
Samples
Known GenesGATC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684906
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001349


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