A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199744



Internal ID21647253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75767509..75767509hg38UCSC Ensembl
chr18:73479464..73479464hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704943
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17199744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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