A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939877



Internal ID22715277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50697032..50697324hg38UCSC Ensembl
chr19:51200289..51200581hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407294
Samples
Known GenesSHANK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939877
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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