A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061614



Internal ID21464103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174848473..174848473hg38UCSC Ensembl
chr1:174817611..174817611hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619137
Supporting Variants
SamplesHG03065
Known GenesRABGAP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061614
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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