A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357243



Internal ID22582912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119252479..119252534hg38UCSC Ensembl
chr1:119795102..119795157hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878222
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357243
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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