A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008652



Internal ID20575693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38851943..38852511hg38UCSC Ensembl
chr13:39426080..39426648hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491427
Supporting Variants
Samples
Known GenesFREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008652
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0004


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