A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764923



Internal ID20540783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2790036..2790036hg38UCSC Ensembl
chr18:2790034..2790034hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285976
Samples
Known GenesSMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764923
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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