A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206126



Internal ID20773166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227155601..227170700hg38UCSC Ensembl
chr2:228020317..228035416hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3815100
hg1915100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349358
Supporting Variants
Samples
Known GenesCOL4A3, COL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206126
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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