A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463595



Internal ID22521481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240732677..240780651hg38UCSC Ensembl
chr1:240895977..240943951hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3847975
hg1947975
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829523
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463595
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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