A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382178



Internal ID21039731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143819431..144160486hg38UCSC Ensembl
chr4:144740584..145081639hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38341056
hg19341056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213097
Samples
Known GenesGYPA, GYPB, GYPE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382178
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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