A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382060



Internal ID21039613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94835201..94839900hg38UCSC Ensembl
chr4:95756352..95761051hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5376n223
Supporting Variantsnssv18214322
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382060
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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