A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936218



Internal ID22711569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38111963..38112110hg38UCSC Ensembl
chr19:38602603..38602750hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392040
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936218
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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