A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322454



Internal ID20855567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42798306..42820179hg38UCSC Ensembl
chr1:43263977..43285850hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3821874
hg1921874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203130
Samples
Known GenesCCDC23, ERMAP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322454
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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