A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571728



Internal ID21520110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109030609..109032557hg38UCSC Ensembl
chr1:109573231..109575179hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381949
hg191949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060287
SamplesHG00731
Known GenesWDR47
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571728
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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