A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17080089



Internal ID21472996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50317296..50317296hg38UCSC Ensembl
chr16:50351207..50351207hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5651929
Supporting Variants
SamplesHG03371
Known GenesADCY7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17080089
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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