A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18117271



Internal ID20684311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48171551..48184770hg38UCSC Ensembl
chr4:48173568..48186787hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3813220
hg1913220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382630
Supporting Variants
Samples
Known GenesTEC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18117271
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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