A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904329



Internal ID22679506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142824176..142824242hg38UCSC Ensembl
chr3:142543018..142543084hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400313
Samples
Known GenesPCOLCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904329
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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