A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17098196



Internal ID21487332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55446372..55446372hg38UCSC Ensembl
chr12:55840156..55840156hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658629
Supporting Variants
SamplesNA18534
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17098196
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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