A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347183



Internal ID21004736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120134521..120134698hg38UCSC Ensembl
chr2:120892097..120892274hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075909
Samples
Known GenesEPB41L5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347183
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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