A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715198



Internal ID138864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2788944..2795644hg38UCSC Ensembl
chr18:2788942..2795642hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527177
Supporting Variants
Samples
Known GenesSMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715198
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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