A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326881



Internal ID20860018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245897201..246642900hg38UCSC Ensembl
chr1:246060503..246806202hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38745700
hg19745700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n223
Supporting Variantsnssv18200685
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326881
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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