A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446456



Internal ID22504326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45641932..45641932hg38UCSC Ensembl
chr7:45681531..45681531hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957490
Supporting Variants
Samples
Known GenesADCY1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446456
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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