A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17434679



Internal ID22492549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36767182..36770867hg38UCSC Ensembl
chr6:36734959..36738644hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383686
hg193686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903284
Supporting Variants
Samples
Known GenesCPNE5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17434679
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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