A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355100



Internal ID22580769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58843508..58843508hg38UCSC Ensembl
chr12:59237290..59237290hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969598
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355100
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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