A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530943



Internal ID20904304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18337825..18345199hg38UCSC Ensembl
chr19:18448635..18456009hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387375
hg197375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18045092
Samples
Known GenesPGPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530943
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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