A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340103



Internal ID20997656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174999701..175004700hg38UCSC Ensembl
chr2:175864429..175869428hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207433
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340103
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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