A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190407



Internal ID20757448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30672179..30676558hg38UCSC Ensembl
chr13:31246316..31250695hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384380
hg194380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490964
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190407
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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