A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943688



Internal ID22719140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47769648..47769709hg38UCSC Ensembl
chr12:48163431..48163492hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364364
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943688
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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