A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17452082



Internal ID22509954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120449312..120452024hg38UCSC Ensembl
chr1:144811867..144814553hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382713
hg192687
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5827623
Supporting Variants
Samples
Known GenesLOC100288142, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17452082
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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