A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6609199



Internal ID20982270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82329399..82828481hg38UCSC Ensembl
chr7:81958715..82457797hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38499083
hg19499083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6977n223
Supporting Variantsnssv18226614
Samples
Known GenesCACNA2D1, PCLO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6609199
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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