A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114965



Internal ID21458647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7125887..7125887hg38UCSC Ensembl
chr2:7266018..7266018hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612371
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114965
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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