A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383199



Internal ID22441069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80113808..80113808hg38UCSC Ensembl
chr17:78087607..78087607hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969286
Supporting Variants
Samples
Known GenesGAA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383199
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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