A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184808



Internal ID20751848
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 StatusS
Merged Variantsnsv6480542
Supporting Variants
Samples
Known GenesCRYL1, GJA3, GJB2, GJB6, MIR4499, PSPC1, ZMYM2, ZMYM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184808
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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