A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486937



Internal ID264287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136433863..136458547hg38UCSC Ensembl
chr9:139328315..139352999hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3824685
hg1924685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029602
Samples
Known GenesINPP5E, SEC16A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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