A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6388771



Internal ID21046324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52037101..52215200hg38UCSC Ensembl
chr4:52903267..53081366hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38178100
hg19178100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211895
Samples
Known GenesSGCB, SPATA18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6388771
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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