A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342194



Internal ID20999747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3069033..3430014hg38UCSC Ensembl
chr2:3072805..3433785hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38360982
hg19360981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208190
Samples
Known GenesTRAPPC12, TSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342194
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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