A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459230



Internal ID22517113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52862950..55652570hg38UCSC Ensembl
chrX:52891979..55679003hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg382789621
hg192787025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882057
Supporting Variants
Samples
Known GenesALAS2, APEX2, FAM104B, FAM120C, FAM156A, FAM156B, FGD1, FOXR2, GNL3L, GPR173, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MAGEH1, MIR4536-1, MIR6857, MIR6894, MIR6895, MIR98, MIRLET7F2, MTRNR2L10, PAGE2, PAGE2B, PAGE3, PAGE5, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSPYL2, TSR2, USP51, WNK3, XAGE3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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