A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351041



Internal ID22576710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167630721..167630721hg38UCSC Ensembl
chr1:167599958..167599958hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952289
Supporting Variants
Samples
Known GenesRCSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351041
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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