A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138212



Internal ID337395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120001566..120090000hg38UCSC Ensembl
chrX:119135523..119223958hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3888435
hg1988436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737363
Samples
Known GenesRHOXF2, RHOXF2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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