A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440448



Internal ID22106626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75712041..75712201hg38UCSC Ensembl
chr2:75939167..75939327hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762102
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440448
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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