A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079247



Internal ID21459177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26800898..26800898hg38UCSC Ensembl
chr12:26953831..26953831hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649689
Supporting Variants
SamplesHG02818
Known GenesITPR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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