A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974149



Internal ID22749084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13594884..13596012hg38UCSC Ensembl
chrX:13613003..13614131hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17515458, nssv17515459
Samples
Known GenesEGFL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974149
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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