A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430227



Internal ID209042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77934164..77935192hg38UCSC Ensembl
chr1:78399849..78400877hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905117
Samples
Known GenesNEXN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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