A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078213



Internal ID21447448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127634170..127634170hg38UCSC Ensembl
chr12:128118715..128118715hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655928
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078213
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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