A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402447



Internal ID21060000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122173669..122273951hg38UCSC Ensembl
chr5:121509364..121609646hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38100283
hg19100283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213132
Samples
Known GenesLOC100505841
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402447
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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