A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351032



Internal ID21008585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241743777..241874643hg38UCSC Ensembl
chr2:242683192..242816794hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38130867
hg19133603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209026
Samples
Known GenesCXXC11, D2HGDH, GAL3ST2, NEU4, PDCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351032
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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