A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063793



Internal ID21433540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240536567..240536567hg38UCSC Ensembl
chr1:240699867..240699867hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620506
Supporting Variants
SamplesHG00731
Known GenesGREM2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063793
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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