A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326280



Internal ID20859414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117048625..117440243hg38UCSC Ensembl
chr1:117591247..117982865hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38391619
hg19391619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv318n223
Supporting Variantsnssv18199755
Samples
Known GenesMAN1A2, MIR942, TRIM45, TTF2, VTCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326280
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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