A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335518



Internal ID20868711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228204738..228310372hg38UCSC Ensembl
chr1:228392439..228498073hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38105635
hg19105635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059196
Samples
Known GenesC1orf145, OBSCN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335518
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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