A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450070



Internal ID228289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73830321..73830620hg38UCSC Ensembl
chr2:74057448..74057747hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915487
Samples
Known GenesSTAMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450070
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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