A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6055782



Internal ID21965015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124357017..124357017hg38UCSC Ensembl
chrX:123490867..123490867hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17640810
Samples
Known GenesSH2D1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6055782
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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