A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927539



Internal ID22702767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30462636..30463343hg38UCSC Ensembl
chr12:30615569..30616276hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351601
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927539
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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