A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18136421



Internal ID20703461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94070234..94070922hg38UCSC Ensembl
chr5:93405939..93406627hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408539
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18136421
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00042


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