A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957575



Internal ID22732688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143630227..143630227hg38UCSC Ensembl
chr6:143951364..143951364hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421129
Samples
Known GenesPHACTR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957575
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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