A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326863



Internal ID20860000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42647023..42651611hg38UCSC Ensembl
chr1:43112694..43117282hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384589
hg194589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18060491
Samples
Known GenesCCDC30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326863
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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