A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054836



Internal ID104396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1957984..1958485hg38UCSC Ensembl
chr12:2067150..2067651hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494230
Supporting Variants
Samples
Known GenesDCP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054836
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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