A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482018



Internal ID22539923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205249145..205257025hg38UCSC Ensembl
chr2:206113869..206121749hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387881
hg197881
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831862
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482018
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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