A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338499



Internal ID20996052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113468501..113516800hg38UCSC Ensembl
chr2:114226078..114274377hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3848300
hg1948300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4082n223
Supporting Variantsnssv18206500
Samples
Known GenesCBWD2, FOXD4L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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