A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085893



Internal ID21502772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5617183..5617183hg38UCSC Ensembl
chr12:5726349..5726349hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649624
Supporting Variants
SamplesNA19239
Known GenesANO2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085893
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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