A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616864



Internal ID21565169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937747..174937747hg38UCSC Ensembl
chr1:174906884..174906884hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061616
SamplesHG00731
Known GenesRABGAP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616864
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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