A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530070



Internal ID20903431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19252285..19256535hg38UCSC Ensembl
chr19:19363094..19367344hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384251
hg194251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18045983
Samples
Known GenesHAPLN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530070
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer