A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595212



Internal ID21543814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44546227..44546889hg38UCSC Ensembl
chrX:49731206..49731798hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38663
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105273
SamplesHG00731
Known GenesCLCN5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595212
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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