A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401648



Internal ID22459518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11607592..11607592hg38UCSC Ensembl
chr2:11747718..11747718hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5965831
Supporting Variants
Samples
Known GenesGREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401648
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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