A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211313



Internal ID20778353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99874801..99879200hg38UCSC Ensembl
chr3:99593645..99598044hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6361362
Supporting Variants
Samples
Known GenesCMSS1, FILIP1L, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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