A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487209



Internal ID21144762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122498337..122506641hg38UCSC Ensembl
chr12:122982884..122991188hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388305
hg198305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191155
Samples
Known GenesRSRC2, ZCCHC8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487209
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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