A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352249



Internal ID21009802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227171609..227174401hg38UCSC Ensembl
chr2:228036325..228039117hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087045
Samples
Known GenesCOL4A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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