A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18136454



Internal ID20703494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94375727..94376486hg38UCSC Ensembl
chr5:93711432..93712191hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401180
Supporting Variants
Samples
Known GenesKIAA0825
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18136454
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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