A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417518



Internal ID22475388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96911971..96922055hg38UCSC Ensembl
chr5:96247675..96257759hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3810085
hg1910085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905191
Supporting Variants
Samples
Known GenesERAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417518
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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