A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323267



Internal ID20856384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65388049..65490342hg38UCSC Ensembl
chr1:65853732..65956025hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38102294
hg19102294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204299
Samples
Known GenesDNAJC6, LEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323267
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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