A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057599



Internal ID106252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55959668..55959760hg38UCSC Ensembl
chr12:56353452..56353544hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561337
Supporting Variants
Samples
Known GenesPMEL
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057599
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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