A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354969



Internal ID22580638
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 StatusS
Merged Variantsnsv5954065
Supporting Variants
Samples
Known GenesSLC9C2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354969
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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