A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607538



Internal ID21555843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16830830..16830830hg38UCSC Ensembl
chrX:16848953..16848953hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17165963
SamplesHG00732
Known GenesTXLNG
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607538
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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