A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970263



Internal ID22745198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55714720..55714720hg38UCSC Ensembl
chr12:56108504..56108504hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354819
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970263
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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