A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447213



Internal ID22505083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40612215..40612863hg38UCSC Ensembl
chr8:40469734..40470382hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926504
Supporting Variants
Samples
Known GenesZMAT4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447213
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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