A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061249



Internal ID21439819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161281759..161281832hg38UCSC Ensembl
chr1:161251549..161251622hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582862
Supporting Variants
SamplesHG00732
Known GenesPCP4L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061249
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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