A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114570



Internal ID21477364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5988117..5988173hg38UCSC Ensembl
chr2:6128249..6128305hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5565104
Supporting Variants
SamplesHG03486
Known GenesLOC400940
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114570
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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