A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17097999



Internal ID21505777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81383991..81383991hg38UCSC Ensembl
chr12:81777770..81777770hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659065
Supporting Variants
SamplesNA19650
Known GenesPPFIA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17097999
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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