A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870847



Internal ID22645784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25287187..25405613hg38UCSC Ensembl
chr1:25613678..25732104hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38118427
hg19118427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360228
Samples
Known GenesRHCE, RHD, TMEM50A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870847
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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