A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477465



Internal ID21135018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122828896..122838116hg38UCSC Ensembl
chr12:123313443..123322663hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg389221
hg199221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178708
Samples
Known GenesHIP1R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477465
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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