A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403253



Internal ID22461123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178432402..178443104hg38UCSC Ensembl
chr2:179297129..179307831hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3810703
hg1910703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903615
Supporting Variants
Samples
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403253
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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