A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18243978



Internal ID20811018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2788634..2790049hg38UCSC Ensembl
chr18:2788632..2790047hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6583314
Supporting Variants
Samples
Known GenesSMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18243978
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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