A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442865



Internal ID22109047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45040275..45040275hg38UCSC Ensembl
chrX:44899520..44899520hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762434
Samples
Known GenesKDM6A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442865
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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