A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554903



Internal ID328074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:662533..1370380hg38UCSC Ensembl
chr17:565773..1273674hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38707848
hg19707902
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710701
Samples
Known GenesABR, BHLHA9, DBIL5P, FAM57A, GEMIN4, GLOD4, MIR3183, NXN, RNMTL1, TIMM22, TUSC5, VPS53, YWHAE
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554903
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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