A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320862



Internal ID20853963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11015768..11101186hg38UCSC Ensembl
chr1:11075825..11161243hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3885419
hg1985419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199253
Samples
Known GenesEXOSC10, MASP2, SRM, TARDBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320862
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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