A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928403



Internal ID22703641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30123052..30123122hg38UCSC Ensembl
chr17:28450070..28450140hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384835
Samples
Known GenesNSRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928403
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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