A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5600619



Internal ID21549260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56603101..56603186hg38UCSC Ensembl
chr12:56996885..56996970hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096730
SamplesHG03009
Known GenesBAZ2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5600619
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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