A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602073



Internal ID21550727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21622481..21622799hg38UCSC Ensembl
chr12:21775415..21775733hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079457
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602073
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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