A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657149



Internal ID21605454
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 StatusM
Merged Variants
Supporting Variantsnssv17097970
SamplesHG01114
Known GenesSRGAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657149
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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