A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085176



Internal ID21458015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55871380..55871380hg38UCSC Ensembl
chr12:56265164..56265164hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657560
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085176
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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