A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048048



Internal ID21957281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17545596..17546506hg38UCSC Ensembl
chr19:17656405..17657315hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621479
Samples
Known GenesFAM129C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048048
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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