A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17515264



Internal ID22573223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119918511..119929722hg38UCSC Ensembl
chrX:119052474..119063685hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3811212
hg1911212
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5972628
Supporting Variants
Samples
Known GenesAKAP14, NKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17515264
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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