A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486300



Internal ID22544214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128088109..128103032hg38UCSC Ensembl
chr2:128845683..128860606hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3814924
hg1914924
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830956
Supporting Variants
Samples
Known GenesUGGT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486300
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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