A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204549



Internal ID21652058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75140541..75140541hg38UCSC Ensembl
chrX:74360376..74360376hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720939
Supporting Variants
Samples
Known GenesABCB7
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)nssv17204549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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