A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948557



Internal ID22724033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149568337..149568337hg38UCSC Ensembl
chr3:149286124..149286124hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419542
Samples
Known GenesWWTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948557
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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