A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062714



Internal ID21403462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2189598..2189598hg38UCSC Ensembl
chr1:2121037..2121037hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624038
Supporting Variants
SamplesHG00171
Known GenesC1orf86
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062714
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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