A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543918



Internal ID20917159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13045301..13191400hg38UCSC Ensembl
chr21:14417622..14563721hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38146100
hg19146100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4518n223
Supporting Variantsnssv18069270
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543918
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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