A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908407



Internal ID22683617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30080624..30080892hg38UCSC Ensembl
chr12:30233557..30233825hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352415
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908407
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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