A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833220



Internal ID22608155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40087761..40098020hg38UCSC Ensembl
chr2:40314901..40325160hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3810260
hg1910260
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17485414
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833220
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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