A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430977



Internal ID209771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178514439..178514497hg38UCSC Ensembl
chr1:178483574..178483632hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892986
Samples
Known GenesTEX35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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