A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480542



Internal ID21138095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19736480..20507748hg38UCSC Ensembl
chr13:20310620..21081887hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38771269
hg19771268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184808
Samples
Known GenesCRYL1, GJA3, GJB2, GJB6, MIR4499, PSPC1, ZMYM2, ZMYM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480542
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer