A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17438618



Internal ID22496488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39647554..39647606hg38UCSC Ensembl
chr8:39505073..39505125hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927497
Supporting Variants
Samples
Known GenesADAM18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17438618
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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