A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6396887



Internal ID21054440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78346301..78411300hg38UCSC Ensembl
chr5:77642125..77707124hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3865000
hg1965000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214154
Samples
Known GenesLOC728769, SCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6396887
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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