A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350755



Internal ID22576424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48724980..48726749hg38UCSC Ensembl
chr12:49118763..49120532hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381770
hg191770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936956
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350755
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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