A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557332



Internal ID330432
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 StatusM
Merged Variants
Supporting Variantsnssv17724553
Samples
Known GenesRND2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557332
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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