A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612130



Internal ID20985201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135495801..135499000hg38UCSC Ensembl
chr6:135816939..135820138hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216018
Samples
Known GenesAHI1, LINC00271
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612130
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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