A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941678



Internal ID22717106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63903571..63903649hg38UCSC Ensembl
chr12:64297351..64297429hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362433
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941678
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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