A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575490



Internal ID21523919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129028983..129032788hg38UCSC Ensembl
chr4:129950138..129953943hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg383806
hg193806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138995
SamplesHG03009
Known GenesSCLT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575490
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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