A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493661



Internal ID21151214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77949168..77950680hg38UCSC Ensembl
chr13:78523303..78524815hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381513
hg191513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18012963
Samples
Known GenesEDNRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493661
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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