A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963645



Internal ID22738580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170525629..170525629hg38UCSC Ensembl
chr3:170243418..170243418hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418776
Samples
Known GenesSLC7A14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963645
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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