A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4389649



Internal ID21380784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38717696..38719928hg38UCSC Ensembl
chr2:38944838..38947070hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706037
Samples
Known GenesGALM
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4389649
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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