A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331574



Internal ID20864738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39692290..39789254hg38UCSC Ensembl
chr1:40157962..40254926hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3896965
hg1996965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203080
Samples
Known GenesBMP8B, OXCT2, PPIE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331574
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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