A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519749



Internal ID296095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7911147..7918089hg38UCSC Ensembl
chr19:7976032..7982974hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386943
hg196943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721082
Samples
Known GenesMAP2K7, TGFBR3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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