A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718101



Internal ID21744422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:75140788..75140788hg38UCSC Ensembl
chrX:74360623..74360623hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248644, nssv17233923
Samples
Known GenesABCB7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718101
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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