A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751416



Internal ID20527276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:77957328..77957403hg38UCSC Ensembl
chrX:77212825..77212900hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296774
Samples
Known GenesATP7A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751416
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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