A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213053



Internal ID20780093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140494901..140501000hg38UCSC Ensembl
chr4:141416055..141422154hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6380626
Supporting Variants
Samples
Known GenesLOC152586
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213053
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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