A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138983



Internal ID338167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19425995..19467658hg38UCSC Ensembl
chrX:19444113..19485776hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3841664
hg1941664
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739535
Samples
Known GenesMAP3K15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer