A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17099426



Internal ID21429545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53930528..53930528hg38UCSC Ensembl
chr12:54324312..54324312hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654230
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17099426
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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