A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934809



Internal ID22710141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95477892..95477963hg38UCSC Ensembl
chr12:95871668..95871739hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364693
Samples
Known GenesMETAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934809
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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