A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652825



Internal ID21601130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37729966..37729966hg38UCSC Ensembl
chr17:36089957..36089957hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088872
SamplesHG00731
Known GenesHNF1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652825
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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