A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382752



Internal ID21040305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82440045..82441187hg38UCSC Ensembl
chr4:83361198..83362340hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18119897
Samples
Known GenesENOPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382752
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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