A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597236



Internal ID21545848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7563757..7568641hg38UCSC Ensembl
chr12:7716353..7721237hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384885
hg194885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086795
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597236
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer