A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6546600



Internal ID20919810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29796823..30635785hg38UCSC Ensembl
chr21:31169140..32008104hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38838963
hg19838965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206044
Samples
Known GenesCLDN17, CLDN8, GRIK1, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP20-4, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, LINC00307, MIR4327
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6546600
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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