A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452830



Internal ID22510703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78839642..78842306hg38UCSC Ensembl
chr12:79233422..79236086hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382665
hg192665
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848084
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452830
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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