A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079454



Internal ID21505059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482028hg38UCSC Ensembl
chr12:21634962..21634962hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5660038
Supporting Variants
SamplesNA19650
Known GenesRECQL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079454
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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