A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6384819



Internal ID21042372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38280548..38283664hg38UCSC Ensembl
chr5:38280650..38283766hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383117
hg193117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18130724
Samples
Known GenesEGFLAM, EGFLAM-AS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6384819
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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