A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954065



Internal ID22729331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173573940..173573940hg38UCSC Ensembl
chr1:173543079..173543079hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354969
Samples
Known GenesSLC9C2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954065
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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