A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178875



Internal ID21317671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46687275..46687338hg38UCSC Ensembl
chr22:47083172..47083235hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936320
Supporting Variants
SamplesHG002
Known GenesCERK
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178875
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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