A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447850



Internal ID22505720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119132087..119139129hg38UCSC Ensembl
chrX:118266050..118273092hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387043
hg197043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881316
Supporting Variants
Samples
Known GenesKIAA1210
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447850
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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