A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442492



Internal ID22108675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31352199..31352199hg38UCSC Ensembl
chrX:31370316..31370316hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760956
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442492
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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