A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489252



Internal ID22547171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196698839..196701538hg38UCSC Ensembl
chr2:197563563..197566262hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831839
Supporting Variants
Samples
Known GenesCCDC150, LOC100130452
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489252
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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