A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831450



Internal ID22606385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124678301..124681100hg38UCSC Ensembl
chr2:125435878..125438677hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1229n209
Supporting Variantsnssv17485881
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831450
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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