A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415657



Internal ID194910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37009457..37010486hg38UCSC Ensembl
chrX:37027530..37028559hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740082
Samples
Known GenesFAM47C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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