A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601796



Internal ID21550447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2885866..2885920hg38UCSC Ensembl
chr12:2995032..2995086hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079607
SamplesHG00512
Known GenesRHNO1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601796
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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