A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054821



Internal ID104383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16300..30000hg38UCSC Ensembl
chr12:75740..89440hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3813701
hg1913701
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415458
Supporting Variants
Samples
Known GenesLOC100288778
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054821
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.495809


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