A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594968



Internal ID21543570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28342552..28342853hg38UCSC Ensembl
chr16:28353873..28354174hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081105
SamplesNA18534
Known GenesNPIPB6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594968
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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