A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615605



Internal ID21563910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75570717..75570717hg38UCSC Ensembl
chr1:76036402..76036402hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066295
SamplesNA20847
Known GenesSLC44A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615605
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