A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327078



Internal ID20860215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45472050..45480189hg38UCSC Ensembl
chr1:45937722..45945861hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg388140
hg198140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177n223
Supporting Variantsnssv18061088
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327078
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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