A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557949



Internal ID331027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1231302..1276710hg38UCSC Ensembl
chr17:1134596..1180004hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3845409
hg1945409
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710800
Samples
Known GenesBHLHA9
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557949
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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