A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6368484



Internal ID21026037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48694720..48697787hg38UCSC Ensembl
chr3:48732153..48735220hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383068
hg193068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18101988
Samples
Known GenesIP6K2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6368484
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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