A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373090



Internal ID22598759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48210739..48210739hg38UCSC Ensembl
chr16:48244650..48244650hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977917
Supporting Variants
Samples
Known GenesABCC11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373090
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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