A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17083569



Internal ID21461337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7176230..7176230hg38UCSC Ensembl
chr12:7328826..7328826hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383697
hg193697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655478
Supporting Variants
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17083569
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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