A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874706



Internal ID22649659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120417807..120451203hg38UCSC Ensembl
chrX:119551662..119585058hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3833397
hg1933397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449175
Samples
Known GenesLAMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874706
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