A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542444



Internal ID20915703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43673915..43715282hg38UCSC Ensembl
chr22:44069795..44111162hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3841368
hg1941368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18074405
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542444
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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