A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876601



Internal ID22651562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71451122..71451431hg38UCSC Ensembl
chrX:70670972..70671281hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466342
Samples
Known GenesBCYRN1, TAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876601
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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