A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747683



Internal ID20523703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45040260..45040260hg38UCSC Ensembl
chrX:44899505..44899505hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281370
Samples
Known GenesKDM6A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747683
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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