A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6405502



Internal ID21063055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144376601..144380300hg38UCSC Ensembl
chr5:143756164..143759863hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18127873
Samples
Known GenesKCTD16
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6405502
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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