A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061350



Internal ID21451607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17594176..17594176hg38UCSC Ensembl
chr1:17920671..17920671hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5609139
Supporting Variants
SamplesHG01596
Known GenesARHGEF10L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061350
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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