A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396381



Internal ID21053934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79444858..79672979hg38UCSC Ensembl
chr6:80154575..80382696hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38228122
hg19228122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18147173
Samples
Known GenesLCA5, SH3BGRL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6396381
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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