A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399528



Internal ID22457398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33225905..33229904hg38UCSC Ensembl
chr2:33450972..33454971hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882675
Supporting Variants
Samples
Known GenesLTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399528
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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