A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486402



Internal ID22544316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130145851..130158571hg38UCSC Ensembl
chr2:130903424..130916144hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3812721
hg1912721
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830980
Supporting Variants
Samples
Known GenesSMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486402
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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