A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206948



Internal ID20773988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64576444..64593092hg38UCSC Ensembl
chr2:64803578..64820226hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3816649
hg1916649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335626
Supporting Variants
Samples
Known GenesAFTPH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206948
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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