A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17476250



Internal ID22534148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21419651..21422239hg38UCSC Ensembl
chr17:21322963..21325551hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382589
hg192589
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887216
Supporting Variants
Samples
Known GenesKCNJ12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17476250
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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