A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350093



Internal ID21007646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39437046..39441596hg38UCSC Ensembl
chr2:39664187..39668737hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg384551
hg194551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086440
Samples
Known GenesLOC728730, MAP4K3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350093
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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