A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079739



Internal ID21440908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46155803..46155803hg38UCSC Ensembl
chr12:46549586..46549586hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656777
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079739
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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