A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061606



Internal ID20628646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47330961..47335861hg38UCSC Ensembl
chr1:47796633..47801533hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324034
Supporting Variants
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061606
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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