A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427948



Internal ID206832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:122646312..122653682hg38UCSC Ensembl
chrX:121780165..121787535hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387371
hg197371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737445
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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