A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085051



Internal ID21401878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55717696..55717754hg38UCSC Ensembl
chr12:56111480..56111538hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5590954
Supporting Variants
SamplesHG00096
Known GenesBLOC1S1, BLOC1S1-RDH5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085051
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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