A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077932



Internal ID21460084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126201771..126201771hg38UCSC Ensembl
chr12:126686317..126686317hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656127
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077932
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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