A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690389



Internal ID114055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101881835..101883354hg38UCSC Ensembl
chr12:102275613..102277132hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381520
hg191520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143906
Supporting Variants
Samples
Known GenesDRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690389
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.065896


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