A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459130



Internal ID22517012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50828909..50832108hg38UCSC Ensembl
chr12:51222692..51225891hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852381
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459130
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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