A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468034



Internal ID22525923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50817813..50820012hg38UCSC Ensembl
chr12:51211596..51213795hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850221
Supporting Variants
Samples
Known GenesATF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468034
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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