A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572872



Internal ID21521266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118092811..118092957hg38UCSC Ensembl
chr2:118850387..118850533hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108258
SamplesNA19983
Known GenesINSIG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572872
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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