A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6100847



Internal ID22010080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120463731..120463957hg38UCSC Ensembl
chrX:119597586..119597812hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17640119
Samples
Known GenesLAMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6100847
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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