A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056030



Internal ID105180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7312769..7318321hg38UCSC Ensembl
chr12:7465365..7470917hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498532
Supporting Variants
Samples
Known GenesACSM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056030
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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