A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206044



Internal ID20773084
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 StatusS
Merged Variantsnsv6546600
Supporting Variants
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)nssv18206044
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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