A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17100721



Internal ID21477090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31097305..31097931hg38UCSC Ensembl
chr18:28677268..28677894hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5598666
Supporting Variants
SamplesHG03486
Known GenesDSC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17100721
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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