A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196043



Internal ID20763083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63904363..63918716hg38UCSC Ensembl
chr12:64298143..64312496hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3814354
hg1914354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472904
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196043
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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