A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949048



Internal ID22724506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134918497..134918497hg38UCSC Ensembl
chr2:135676067..135676067hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406464
Samples
Known GenesCCNT2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949048
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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