A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17637978



Internal ID21830025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124350673..124350753hg38UCSC Ensembl
chrX:123484523..123484603hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6104202
Supporting Variants
Samples
Known GenesSH2D1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17637978
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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