A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17476131



Internal ID22534029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19237486..19276731hg38UCSC Ensembl
chr17:19140799..19180044hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3839246
hg1939246
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887264
Supporting Variants
Samples
Known GenesEPN2, EPN2-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17476131
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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