A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430421



Internal ID209230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176725110..176926077hg38UCSC Ensembl
chr1:176694246..176895213hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38200968
hg19200968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683684
Samples
Known GenesASTN1, PAPPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430421
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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