A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448868



Internal ID22115046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124350701..124350849hg38UCSC Ensembl
chrX:123484551..123484699hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762865
Samples
Known GenesSH2D1A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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