A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930928



Internal ID22706203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63903922..63909442hg38UCSC Ensembl
chr12:64297702..64303222hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg385521
hg195521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365726
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930928
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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