A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316637



Internal ID20849717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44413847..44417305hg38UCSC Ensembl
chr1:44879519..44882977hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201337
Samples
Known GenesRNF220
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316637
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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