A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651801



Internal ID21600106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5168420..5168420hg38UCSC Ensembl
chr17:5071715..5071715hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087550
SamplesHG02587
Known GenesUSP6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651801
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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