A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399308



Internal ID22457178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27587918..27588854hg38UCSC Ensembl
chr2:27810785..27811721hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875413
Supporting Variants
Samples
Known GenesZNF512
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399308
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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