A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373173



Internal ID22598842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59152232..59152232hg38UCSC Ensembl
chr18:56819464..56819464hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973163
Supporting Variants
Samples
Known GenesSEC11C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373173
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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