A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062285



Internal ID21486808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211791718..211792485hg38UCSC Ensembl
chr1:211965060..211965827hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5568026
Supporting Variants
SamplesNA12878
Known GenesLPGAT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062285
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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