A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480388



Internal ID21137941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45274366..45348641hg38UCSC Ensembl
chr13:45848501..45922776hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3874276
hg1974276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185975
Samples
Known GenesGTF2F2, SNORA31, TPT1, TPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480388
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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