A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6541312



Internal ID20914593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31004657..31290411hg38UCSC Ensembl
chr21:32376976..32662726hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38285755
hg19285751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206054
Samples
Known GenesKRTAP19-8, TIAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6541312
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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