A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464750



Internal ID22522638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193105520..193108654hg38UCSC Ensembl
chr1:193074650..193077784hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg383135
hg193135
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829118
Supporting Variants
Samples
Known GenesGLRX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464750
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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