A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624136



Internal ID21572441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174703555..174703555hg38UCSC Ensembl
chr1:174672693..174672693hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061943
SamplesHG00512
Known GenesRABGAP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624136
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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