A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482007



Internal ID22539912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204556850..204562123hg38UCSC Ensembl
chr2:205421573..205426846hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385274
hg195274
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832375
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482007
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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