A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967942



Internal ID22742877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52953837..52953837hg38UCSC Ensembl
chr12:53347621..53347621hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356107
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967942
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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