A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17083533



Internal ID21414198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757634..765616hg38UCSC Ensembl
chr12:866800..874782hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387983
hg197983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5585670
Supporting Variants
SamplesHG00513
Known GenesWNK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17083533
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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