A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330048



Internal ID20863202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31799162..31824054hg38UCSC Ensembl
chr1:32264763..32289655hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3824893
hg1924893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203588
Samples
Known GenesSPOCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330048
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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