A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236420



Internal ID20803460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75283301..75289600hg38UCSC Ensembl
chr6:75993017..75999316hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403525
Supporting Variants
Samples
Known GenesLOC100506804, TMEM30A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236420
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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