A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461402



Internal ID21118955
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 StatusM
Merged Variants
Supporting Variantsnssv18187002
Samples
Known GenesEID3, TXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461402
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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