A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317246



Internal ID20850330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197291568..197294716hg38UCSC Ensembl
chr1:197260698..197263846hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056402
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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