A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348044



Internal ID21005597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107883785..108500628hg38UCSC Ensembl
chr2:108500241..109117084hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38616844
hg19616844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205850
Samples
Known GenesGCC2, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348044
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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