A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416183



Internal ID195420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118283005..118922187hg38UCSC Ensembl
chrX:117416968..118056150hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38639183
hg19639183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737269
Samples
Known GenesDOCK11, IL13RA1, MIR1277, WDR44, ZCCHC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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