A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349221



Internal ID21006774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226877715..227132887hg38UCSC Ensembl
chr2:227742431..227997603hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38255173
hg19255173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206124
Samples
Known GenesCOL4A4, RHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349221
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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