A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344990



Internal ID21002543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227282133..227329315hg38UCSC Ensembl
chr2:228146849..228194031hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3847183
hg1947183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206128
Samples
Known GenesCOL4A3, LOC654841, MFF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344990
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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