A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946137



Internal ID22721623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62238662..62238731hg38UCSC Ensembl
chr18:59905895..59905964hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381361
Samples
Known GenesKIAA1468
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946137
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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