A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649311



Internal ID21597616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39694258..39694258hg38UCSC Ensembl
chr17:37850511..37850511hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081491
SamplesHG00733
Known GenesERBB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649311
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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