A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485548



Internal ID22543459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44275809..44289217hg38UCSC Ensembl
chr2:44502948..44516356hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3813409
hg1913409
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832674
Supporting Variants
Samples
Known GenesSLC3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485548
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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