A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940699



Internal ID22716111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77710476..77879918hg38UCSC Ensembl
chr13:78284611..78454053hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38169443
hg19169443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387943
Samples
Known GenesEDNRB-AS1, SLAIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940699
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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