A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138396



Internal ID337580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147048671..147649258hg38UCSC Ensembl
chrX:146130189..146730776hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38600588
hg19600588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737811
Samples
Known GenesMIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR514A1, MIR514A2, MIR514A3, MIR514B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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