A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450863



Internal ID22508736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151175915..151176914hg38UCSC Ensembl
chr1:151148391..151149390hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828134
Supporting Variants
Samples
Known GenesTMOD4, VPS72
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450863
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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