A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6387428



Internal ID21044981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88006001..88009200hg38UCSC Ensembl
chr4:88927153..88930352hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214768
Samples
Known GenesPKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6387428
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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