A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750976



Internal ID20526836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120241381..120241718hg38UCSC Ensembl
chrX:119375234..119375573hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38338
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279077
Samples
Known GenesNKAPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750976
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer