A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187002



Internal ID20754042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104300701..104307400hg38UCSC Ensembl
chr12:104694479..104701178hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461402
Supporting Variants
Samples
Known GenesEID3, TXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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