A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348080



Internal ID21005633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30148099..30152208hg38UCSC Ensembl
chr2:30370965..30375074hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384110
hg194110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085168
Samples
Known GenesYPEL5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348080
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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