A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475228



Internal ID22533123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61740689..61742788hg38UCSC Ensembl
chr17:59818050..59820149hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873233
Supporting Variants
Samples
Known GenesBRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475228
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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