A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690039



Internal ID113705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93024150..93026070hg38UCSC Ensembl
chr12:93417926..93419846hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500224
Supporting Variants
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690039
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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