A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604114



Internal ID21552781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56789086..56789310hg38UCSC Ensembl
chr12:57182870..57183094hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083371
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604114
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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