A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060170



Internal ID21457453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11959546..11959720hg38UCSC Ensembl
chr1:12019603..12019777hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5584184
Supporting Variants
SamplesHG02587
Known GenesPLOD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060170
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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