A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079830



Internal ID21459190
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 StatusS
Merged Variantsnsv5600797
Supporting Variants
SamplesHG02818
Known GenesSRGAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079830
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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