A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724553



Internal ID148219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43031256..43031264hg38UCSC Ensembl
chr17:41183273..41183281hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389
hg199
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557332
Supporting Variants
Samples
Known GenesRND2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724553
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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