A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233923



Internal ID21681432
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 StatusS
Merged Variantsnsv5718101
Supporting Variants
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)nssv17233923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer