A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439090



Internal ID22496960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130307201..130307257hg38UCSC Ensembl
chr8:131319447..131319503hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916787
Supporting Variants
Samples
Known GenesASAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439090
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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