A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882057



Internal ID22657034
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 StatusM
Merged Variants
Supporting Variantsnssv17459230
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)nsv5882057
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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