A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717937



Internal ID141603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47090974..47331426hg38UCSC Ensembl
chr18:44617345..44857797hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38240453
hg19240453
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555886
Supporting Variants
Samples
Known GenesHDHD2, IER3IP1, KATNAL2, SKOR2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717937
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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