A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084781



Internal ID21435186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78115614..78115614hg38UCSC Ensembl
chr17:76111695..76111695hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657219
Supporting Variants
SamplesHG00731
Known GenesTMC6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084781
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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