A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488354



Internal ID21145907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77750093..77832716hg38UCSC Ensembl
chr13:78324228..78406851hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3882624
hg1982624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193106
Samples
Known GenesEDNRB-AS1, SLAIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488354
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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