A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847485



Internal ID22031128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56689836..56689836hg38UCSC Ensembl
chr18:54357067..54357067hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242490
Supporting Variants
Samples
Known GenesWDR7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847485
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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