A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17083611



Internal ID21457982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59699980..59699980hg38UCSC Ensembl
chr12:60093761..60093761hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5652379
Supporting Variants
SamplesHG02587
Known GenesSLC16A7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17083611
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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