A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476844



Internal ID21134397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40796450..40859997hg38UCSC Ensembl
chr13:41370586..41434133hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3863548
hg1963548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189315
Samples
Known GenesMIR621, SLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476844
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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