A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442076



Internal ID22499946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134384705..134809218hg38UCSC Ensembl
chrX:133518735..133943248hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38424514
hg19424514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871432
Supporting Variants
Samples
Known GenesFAM122B, FAM122C, HPRT1, LINC00629, MIR424, MIR450A1, MIR450A2, MIR450B, MIR503, MIR503HG, MIR542, PHF6, PLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442076
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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