A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469118



Internal ID22527009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51315952..51319951hg38UCSC Ensembl
chr12:51709736..51713735hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854019
Supporting Variants
Samples
Known GenesBIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469118
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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