A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947050



Internal ID22722550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40195435..40195511hg38UCSC Ensembl
chr19:40701342..40701418hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393610
Samples
Known GenesMAP3K10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947050
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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