A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353078



Internal ID22578747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63919508..63919508hg38UCSC Ensembl
chr12:64313288..64313288hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974874
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353078
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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