A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322720



Internal ID20855834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112643827..112715089hg38UCSC Ensembl
chr1:113186449..113257711hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3871263
hg1971263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199282
Samples
Known GenesCAPZA1, MOV10, PPM1J, RHOC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322720
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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