A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430888



Internal ID209682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12017096..12025879hg38UCSC Ensembl
chr1:12077153..12085936hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg388784
hg198784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893172
Samples
Known GenesMIIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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