A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416851



Internal ID196063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150571058..150572276hg38UCSC Ensembl
chr1:150543534..150544752hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890577
Samples
Known GenesADAMTSL4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416851
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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