A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344960



Internal ID21002513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37124295..37130135hg38UCSC Ensembl
chr2:37351438..37357278hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg385841
hg195841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089087
Samples
Known GenesEIF2AK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344960
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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