A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6403179



Internal ID21060732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55532601..55536300hg38UCSC Ensembl
chr5:54828429..54832128hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214053
Samples
Known GenesPPAP2A, RNF138P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6403179
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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