A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062101



Internal ID21464285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202451122..202452609hg38UCSC Ensembl
chr1:202420250..202421737hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579632
Supporting Variants
SamplesHG03065
Known GenesPPP1R12B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062101
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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