A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467987



Internal ID21125540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42254402..42408410hg38UCSC Ensembl
chr12:42648204..42802212hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38154009
hg19154009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190507
Samples
Known GenesPPHLN1, ZCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467987
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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