A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365523



Internal ID22591192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30763933..30771048hg38UCSC Ensembl
chr12:30916867..30923982hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387116
hg197116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5922684
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365523
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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