A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928351



Internal ID22703589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74229779..74229830hg38UCSC Ensembl
chr12:74623559..74623610hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362759
Samples
Known GenesLOC100507377
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928351
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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