A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904560



Internal ID22679737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34434491..34526654hg38UCSC Ensembl
chr6:34402268..34494431hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3892164
hg1992164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440015
Samples
Known GenesPACSIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904560
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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