A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6411763



Internal ID21069316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46841055..48021507hg38UCSC Ensembl
chr6:46808792..47989243hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381180453
hg191180452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18231268
Samples
Known GenesCD2AP, GPR110, GPR111, GPR115, GPR116, OPN5, PTCHD4, TNFRSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6411763
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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