A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077719



Internal ID21449172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840024..124840024hg38UCSC Ensembl
chr12:125324570..125324570hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647041
Supporting Variants
SamplesHG00864
Known GenesSCARB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077719
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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