A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448214



Internal ID22114392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71520411..71521244hg38UCSC Ensembl
chrX:70740261..70741094hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767556
Samples
Known GenesBCYRN1, TAF1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448214
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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