A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6383147



Internal ID21040700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47978060..48024146hg38UCSC Ensembl
chr4:47980077..48026163hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3846087
hg1946087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18117262
Samples
Known GenesCNGA1, NIPAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6383147
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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